DNA Today: A Genetics Podcast

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Our guest this week is Dr.Tod Klingler, who is the head of product research and development at Genomic Life. Over his 25-year career, Dr. Klingler has held leadership roles with organizations that have successfully developed and commercialized innovative products including Illumina, Roche, XDx (now CareDx) and Incyte. Dr. Klingler has also founded start-up companies such as Prospect Genomics and Station X. On this episode, he shares insights from his decades long career in the industry! Disclaimer: DNA Today is sponsored by some genetic companies. You can view the full list of DNA Today sponsors at DNApodcast.com/sponsors. Since we are both US based our conversation will focus on the industry in America. On This Episode We Discuss: Changes in genetic testing trends over the last few decades The benefits of companies shifting from specializing in specific types of genetic tests to expanding into multiple areas of genetics How laws, professional organization guidelines/recommendations and insurance changes affect genetic testing labs The role of genetic counseling companies in the future Types of genetic testing (ex: Liquid Biopsies, PRS, WGS) Advice for genomic companies on best practices to become successful Recommendations for resources for people to keep up with industry changes In this episode, Tod shared some recommendations for resources for people to keep up with all of these genetic testing industry changes which you can access here: GenomeWeb, GA for GH, and Genome.gov! You can also check out the PGx legislation and HR 2144 that were mentioned during the interview. Stay tuned for the next new episode of DNA Today on August 5th, 2022 ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! This week we’re continuing our Q and A discussion on genetic counseling program apps with Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Be sure to check out part 1 of our Q and A from last week, and if you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today! Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children. Listener Questions Answered: How should you talk about low grades or GPA in your application? Do you have any advice/resources for navigating financial aid? What’s one thing you wished you did differently? What advice do you have for BIPOC applicants? Shoutout to Isabella, Hope, Emily and other listeners for submitting our discussion questions! Don’t forget to listen to part one of this conversation in last week’s episode 193. Resources that were mentioned in the episode include GOLDEN and the Minority Genetic Professional Network. Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram! Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at gcprepllc.com for 20% off. Stay tuned for the next new episode of DNA Today on July 29th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Y’all asked and we answered! Some of our most popular episodes are about the genetic counseling application process, so we are doing a QnA about it in this episode. If you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87, 97, 101, and 155 of DNA Today. Our guests for this episode are Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties are clinical prenatal counseling, patient-facing laboratory counseling, and most recently lab analysis. She is licensed in 9 states and has worked on projects involving whole genome sequencing, research study consenting, COVID antibody testing patient support, and educational video development. Mikayla is passionate about the need for increased valuation of counselors and flexible work options, especially for those in caregiving roles, as the field of genetic counseling expands to meet the exponential testing needs of patients. Mikayla lives in Colorado and has two young children. Listener Questions Answered: What activities, classes stand out in applications? How much shadowing or informational interviews are an acceptable amount? What factors were important to you when you were narrowing down what schools to apply to? How common are campus visits in grad school, and how do you recommend setting one up? Advice on how to craft a personal statement? What are the different approaches? For reapplicants, how should you showcase growth between app cycles? Shoutout to Ashley, Maya, Vivian, Leah, Bernabe, Hannah, Molly, Emily, Rachna, and Crystal for submitting our discussion questions! Don’t forget to tune in next week to part two of this conversation to see if we answer your question! Stay up to date on the latest opportunities and events happening at GC Prep by following them on Twitter, Facebook, LinkedIn, and Instagram! Be sure to check out GC Prep for more insight and mentorship as you apply to genetic counseling programs. And since you are a DNA Today listener, you can use promo code “DNATODAY” at www.gcprepllc.com for 20% off. Stay tuned for the next new episode of DNA Today on July 22nd, 2022 where we’ll continue this conversation with Janelle and Mikayla and answer more of your questions about GC program applications! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactive

Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.

Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! On Friday, June 24th, 2022, the US Supreme Court released its decision in Dobbs v. Jackson Women’s Health Organizationvoting to overturn Roe v. Wade— the 1973 ruling that guaranteed federal constitutional protections of abortion rights. In this discussion we will be explaining the abortion laws and how this decision specifically affects genetic counseling with Laura Hercher. Laura is a seasoned genetic counselor and the host of ​​The Beagle Has Landed podcast. She is also on the team at Sarah Lawrence College’s Genetic Counseling program coordinating student research, directing the ethics course and facilitating the weekly current events discussion. In the week leading up to this episode we asked our listeners to submit their questions on our social media channels, be sure to listen to see if your question was answered! On This Episode We Discuss: Trigger laws and when they go into effect The effect of this decision on pro-choice states (CT, NY, CA, etc) How this ruling disproportionately affects people who can’t afford to travel for abortions Genetic counseling in a post-Roe world and how this decision affects the field The legal ramifications for genetic counselors discussing patients’ options in abortion banned states How the overturning of Roe is going to impact pedigrees Receiving care (medication, D&C, D&E) in states that now have abortion bans How this affects pregnancies that are non-viable and people with conditions where a pregnancy is life-threatening Recommended resources/organizations for people to donate money or volunteer Following this episode, DNA Today made a donation to The National Network of Abortion Funds, which aims to remove barriers to abortion access. We encourage our listeners to do the same here. To stay up to date on the latest developments in the overturning of Roe v Wade and hear Laura’s thoughts on these issues, follow her on Twitter and LinkedIn. You can also follow her podcast, The Beagle has Landed, on Twitter and Facebook. Stay tuned for the next new episode of DNA Today on July 8th, 2022 where we’ll be welcoming Atticus Shaffer, who played Brick Heck on the ABC sitcom The Middle, to discuss his experience with Osteogenesis Imperfecta ! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartmen

Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode. DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips’ Speaker Series, “Gender Affirming Care in Genetic Counseling”. The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein. Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients. On This Episode We Discuss: • Improving clinic experiences for transgender and gender non-conforming patients • Beyond standards: gender affirming family history collection • Challenges to providing gender affirming care in existing service delivery models • Education and advocacy in the genetics and genomics community The PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on July 1st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips. The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen! As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group. Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss: Why it’s important to denote someone’s sex assigned at birth Incorporate same sex couples utilizing a donor or donors to concieve in pedigrees Best ways to indicate that someone is transgender on pedigrees Representing gender non-conforming or non-binary people on pedigrees Making note of family members’s pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we’ll be dropping an installment of the PhenoTips Speaker Series! The topic of this week’s series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED) In my free time during the summer I am usually with friends at our apartment’s pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don’t like all the sugar. So I’ve been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED) A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I go

Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases. On This Episode We Discuss: How propionic and Methylmalonic Acidemia affect the body PA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMA The goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA community Living with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseases If you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here. Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan’s journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram. Stay tuned for the next new episode of DNA Today on June 17, 2022, where we’ll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can’t wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society, and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics. June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum, the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc., a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine. On This Episode We Discuss: Facioscapulohumeral Muscular Dystrophy (FSHD) Types of FSHD Causes of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencing The genetic etiology of FSHD type 1 vs 2 Benefits of ordering FSHD testing through PerkinElmer Genomics Clinical trials for FSHD When the FSHD Society predicts that treatments will be available for people with FSHD To learn more about genetic testing for FSHD, visit PerkinElmer Genetics and the FSHD Society and be sure to follow the FSHD Society on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on June 10, 2022. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease. Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen. Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com. The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life. On This Episode We Discuss: Susannah’s journey to a diagnosis Kif1A – and what a pathogenic variant (mutation) in this gene means Living with a nano-rare disease Susannah’s courage and joy Finding a treatment for Susannah To hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to [email protected]. Stay tuned for the next new episode of DNA Today on June 3rd! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

Joining us this week is Dr. Yael Joffe, Founder and Chief Scientific Officer of 3X4 Genetics, a genetic testing partner for providers that allows them to bring genetic testing into their practice so that they can provide patients with more personalized and DNA-based actionable insights that will help them live better, longer, and healthier lives. Dr. Joffe is also a fellow podcaster! She is the host of The Power of Genetics, a podcast that features inspiring conversations and practical advice from the world’s top expert practitioners at the forefront of the future of health. Dr. Joffe is an expert in the field of nutrigenmoics, starting her career as a dietician before going on to earn her PhD in nutrigenomics from the University of Cape Town, exploring the genetics of obesity. She has authored 3 books, It’s not just your Genes, the SNP Journal, and Genes To Plate and has been published in peer-reviewed journals. As a true practitoner-scientist, she is passionate about translating the science of nutrigenomics into clinical practice and teaching everyone from students at Rutgers University to clinicians around the world. On This Episode We Discuss: Aspects of our metabolism and eating behaviors that have identified genetic links (Snacking v binging, feeling full, storing calories, etc.) Specific genes that contribute to BMI The role of epigenetics in nutrigenomics Famine studies revealing nutrigenomics insights How nutrigenetic tests work Utilizing information from nutrigenetic tests for personalized diet and exercise plans “DNA Dieting” Genetic conditions that have metabolic symptoms The future of nutrigenomics Check out Dr. Joffe’s podcast, “The Power of Genetics”, in your fav podcaster player. And keep your eye out for a guest appearance from our host, Kira Dineen! Keep up with our guest, Dr. Yael Joffe on Instagram and LinkedIn, and stay up to date on the latest developments at 3X4 Genetics by following them on Twitter, Instagram, LinkedIn and Facebook. Stay tuned for the next new episode of DNA Today on May 27, 2022 which will be extra special because we’re dropping the pilot episode of The Patient Engagement Program by n-Lorem, a brand new podcast that is co-produced by our host, Kira Dineen! This podcast focuses solely on the needs of nano-rare patients, and you may recognize the voice of the show’s host, Dr. Stan Crooke, who was featured on Episode #141 of DNA Today! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

In honor of Vision Health Month and Blindness Awareness Month, we are exploring Blueprint Genetics’ My Retina Tracker program with ​​Khalida Liaquat, who is a genetic counselor and the Senior Manager of Genomic Services at Quest Diagnostics. Our other guest is Ariana Lichtenstein, who is the Director of Business development at Blueprint Genetics. Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, they deliver high-quality genetic testing to the global clinical community across 15 medical specialties, with a customer base spanning over 70 countries. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare. Khalida Liaquat, MS, CGC, is a graduate of the Sarah Lawrence College genetic counseling program and is certified by the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts. Khalida is a Senior Manager of Genomics Services at Quest diagnostics and supports the Athena Diagnostics and Blueprint Genetics laboratories. Her clinical work history includes serving as clinical prenatal and pediatric genetic counselor at Kings County Hospital Center and Woodhull Medical Center in Brooklyn, NY. Her special interests include patient advocacy, variant sciences and education. Khalida is an active member of the National Society of Genetic Counselors. Ariana Lichtenstein, MS, graduated cum laude from Vanderbilt University with a degree in Neuroscience. Her passion is the genetics of epilepsy disorders, and she conducted research on dopamine transporter protein in the Department of Pharmacology while at Vanderbilt. She is the Director of Business Development at Blueprint Genetics, managing relationships with BioPharma clients based in the Americas. Ariana has spent the past decade on the commercial side of the molecular diagnostics industry, working for both prenatal and postnatal commercial laboratories. On This Episode We Discuss: Inherited retinal dystrophies (IRD) The My Retina Tracker Program and registry The benefits of joining rare disease registries The privacy of registries Informed DNA and its benefits How knowing one’s IRD gene mutation help them qualify for clinical trials Blueprint Genetics’ testing panel Benefits of genetic testing for IRD patients Want to learn more about inherited retinal dystrophies (IRD)? Blueprint Genetics is hosting a webinar on May 24th, 2022. Register here. Head over to blueprintgenetics.com and follow Blueprint on Twitter, Facebook, and LinkedIn. Connect with our guests, Khalida and Ariana on their social media channels: Khalida's Twitter, Khalida's LinkedIn, and Ariana's LinkedIn Stay tuned for the next new episode of DNA Today on May 20, 2022 where we’ll be joined by Yael Joffe, host of The Power of Genetics podcast, to discuss nutrigenomics! In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on June 1st! You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (SPONSORED)

Last episode (182) we were joined by Dr. Eric Green, the Director of the National Human Genome Research Institute (NHGRI) at the NIH. And we chatted about the recent completion of the human genome. To continue this conversation, I am joined by the co-founders of the Telomere to Telomere Consortium which lead this project! Dr. Karen Miga is an Assistant Professor in Biomolecular Engineering at The University of California, Santa Cruz. She is also the associate director of the UCSC Genomics Institute. The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. She received a B.S. in biological sciences from the University of Tennessee Knoxville and then went on to get a masters degree in genetics at Case Western Reserve University. Karen received her Ph.D. in genetics and computational biology from Duke University. She was named as “One to Watch” in the 2020 Nature's 10. Dr. Adam Phillippy is a Senior Investigator and Head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI). His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, alignment, clustering, forensics, and metagenomics. He received a B.S. in computer science from Loyola University Maryland in 2002. He first worked as a bioinformatics engineer at The Institute for Genomic Research (TIGR) and later received a Ph.D. in computer science from the University of Maryland in 2010. After graduate school he led a bioinformatics group at the National Bioforensics Analysis Center before joining NHGRI in 2015. In 2019, he was awarded tenure by the NIH and received the U.S. Presidential Early Career Award for Scientists and Engineers. On This Episode We Discuss: The recent announcement about the completion of the human genome sequence The name for this new human reference genome and what the letters stand for How T2T-CHM13 complements the previous human reference genome, GRCh38 Advantages of “long read” over “short read” DNA sequencing technologies Why telomeres and centromeres are hard to sequence Valuable information that we can learn from sequencing centromeres and telomeres The future of variant classification Linking newly sequenced genes to genetic conditions or traits If you’re interested in learning more about the newly completed human genome, check out this article and newsletter! Stay up to date with the latest advancements Be sure to follow Dr. Phillippy, Dr. Miga, and National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! Stay tuned for the next new episode of DNA Today on May 13, 2022 where we’ll be joined by ​​Khalida Liaquat and Ariana Lichtenstein of Blueprint Genetics to discuss the My Retina Tracker Program! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you sh

On this week’s episode of DNA Today we’re discussing the past, present, and future of the Human Genome Project and the Telomere to Telomere Consortium with Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). The Human Genome Project is an international scientific research project that began in 1990, with the goal of determining the base pairs that make up human DNA, and identifying, mapping, and sequencing all of the genes of the human genome; however, no one chromosome has yet been finished end to end, and hundreds of gaps persist across the genome. The Telomere to Telomere (T2T) Consortium is an open, community-based effort to generate the first complete assembly of a human genome, filling in these unresolved gaps. Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications, a few of which we are chatting about today. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). On This Episode We Discuss: Dr. Green’s involvement in the Human Genome Project (HGP) The first chromosome to be completely sequenced When the human genome sequence was completed The Telomere to Telomere (T2T) Consortium What made the last 10% of the human genome difficult to sequence How many genomes were studied for the HGP How the fully complete genome sequence impacts people The NIH’s All of Us Reacher Program Learn more about the Human Genome Project and what we talked about on this episode at genome.gov. If this episode piqued your interest, check out the articles below to learn about the most recent advancements in the Human Genome Project, and the work of the T2T Consortium. https://www.genome.gov/about-nhgri/Director/genomics-landscape/april-7-2022-the-human-genome-sequence-is-now-complete https://www.scientificamerican.com/article/completing-the-human-genome-sequence-again/ https://www.genome.gov/10000666/1997-news-release-pendred-syndrome-gene Be sure to follow Dr. Green and the National Human Genome Research Institute on Twitter to stay up to date on the latest human genome research news and announcements! Stay tuned for the next new episode of DNA Today on May 6, 2022 where we’ll continue discussing the Human Genome Project and the Telomere to Telomere Consortium with Drs. Miga and Philippy. New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing fo

To celebrate DNA Day we are joined by Dr. Stephanie Ryan! In this podcast episode, Dr. Ryan discusses science education and communication, especially making science understandable for kids. To keep the celebrations going we will be co-hosting a virtual event on DNA Day itself, Monday, April 25th at 6pmET! During this special DNA Day event we will do a live DNA experiment with Dr. Stephanie Ryan. You can follow along at home to do the experiment with us! You can register for the event here. Stephanie Ryan, Ph.D. is a chemist, boy mom, and a social media influencer who enjoys using her background in academia to create educational products and content, helping young kids learn through play about the fascinating world around them. Over the years, Dr. Ryan has taught science to all age groups, both in and out of the classroom, helping toddlers learn about their world and college students define theirs. She is an active member of the chemistry education community and is currently a committee member of the International Activities Committee for the Division of Chemical Education. Ryan earned her Ph.D. in the Learning Sciences and her M.S. in Analytical Chemistry from the University of Illinois at Chicago. She earned her B.S. in Chemistry from Saint Mary’s College. On This Episode We Discuss: Thoughts on correcting kids if they have an incorrect understanding What to do if kids ask questions that we don’t know how to answer Recommended resources for parents/caregivers to foster scientific curiosity in their children from a young age The recommended age kids should start learning about STEM concepts The inspiration behind Dr. Ryan’s book, “Lets Learn About Chemistry” Advice for being a science communicator, especially on social media Want a free copy of “Lets Learn About Chemistry”? Head over to our social media to enter our giveaway! Search “DNA Today” on Twitter, Instagram, and Facebook. For great learning activities in the sciences, book recommendations, and more, follow Dr. Ryan on Instagram and visit her website letslearnaboutscience.com. Also don’t forget to mark your calendar for Monday, April 25th. It’s DNA Day! At 6pmET we will be co-hosting a virtual event with Dr. Ryan. She will be our guide for doing these at-home DNA experiments together! Register here. Stay tuned for the next new episode of DNA Today on April 29, 2022, where we’ll be discussing the completion of the human genome with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH)! New episodes are released on Fridays. In the meantime, you can binge over 180 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Are you seeking a career with purpose in the healthcare space? We’d recommend checking out Worldwide Clinical Trials, a contract research organization that partners with pharmaceutical and biotechnology companies to advance development of new medicines. Apply your passion at Worldwide where they take an entrepreneurial approach backed by scientific expertise to help bring treatment options to patients. With a global team of 3,000 experts, you will be inspired by bright thinkers, dreamers and doers who innovate and invent for a brighter tomorrow. Perks include unlimited flexible paid time off, limited travel requirements, and the ability to work remotely. Bring your talents and passion and join the team at worldwide.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bo

We are excited to share that Kourtney Kardashian recently featured in DNA Today in an article on Poosh, “How Genetics Play the Ultimate Role in Health”. Our host, Kira Dineen, shares insight on genetic counseling and epigenetics. The Chief Medical Officer of Mitera, Dr. Kathy Salari, joins the show. Mitera is a telehealth company that offers a unique care model that uses remote technologies and subspecialty medical oversight to responsibly democratize access to reproductive genetic testing. On this episode, Dr. Salari will be sharing about Mitera’s at-home reproductive genetic testing options including non-invasive prenatal screening and carrier screening. Dr. Kathy Salari is a maternal-fetal medicine subspecialist with expertise in caring for high-risk pregnancies. Her clinical work primarily focuses on reproductive genetics and fetal imaging. She received her Bachelor’s degree in Molecular Genetics from U.C. Berkeley in 2001 and her medical degree from U.C. San Diego in 2008. She then went on to complete her residency in Obstetrics & Gynecology followed by a fellowship in Maternal-Fetal Medicine at the University of Michigan in 2014. Following completion of her training, she began her clinical career as a maternal-fetal medicine specialist in the San Francisco Bay Area. In a period of two years she was named Chair of Clinical Genetics as well as the Director of Fetal Imaging and Perinatal Genetics at Palo Alto Medical Foundation. During her tenure as the director of a high volume fetal imaging center and maternal-fetal medicine group, her passion for timely and accurate diagnosis of birth defects and delivery of evidence-based obstetric care was emboldened. Driven by a vision for bringing subspecialty reproductive health expertise to every pregnant person across the country, she founded Mitera in 2019. By employing a telehealth platform for reproductive genetic testing, she hopes to bridge gaps in maternity care and broaden access to the responsible delivery of diagnostic technologies across the country. On This Episode We Discuss: Inspiration behind Mitera Genetic conditions included in Mitera’s 23Pears carrier screening kit Kira’s experience with 23Pears and what consider she is a carrier of Informed consent process for ordering genetic testing How results are shared with patients Information included in Peaches&Me (Non-Invasive Prenatal Screening) Why Mitera’s tests do not include microdeletions (NY Times article referenced) How patients can order Mitera testing >>>>> Insert YT Mitera Video

This week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast, discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed! To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequencing. We even discussed direct-to-consumer genetic testing like 23andMe and ancestry including the potential (and current) uses for criminal justice. We speculated about social implications of the testing along with other futures that may be in store for genetic testing. On This Episode We Discuss: The process and science behind genetic testing Types of conditions that can be tested for The difference between genotyping and sequencing Direct-to-consumer genetic testing Social implications of testing The future of genetic testing If you enjoyed James’ interview style be sure to subscribe to The Science of Everything Podcast! Keep up to date with James and the podcast on Facebook and LinkedIn. Stay tuned for the next new episode of DNA Today on April 15, 2022 where we’ll be discussing reproductive DNA testing with Mitera! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) If you enjoy DNA Today, especially Episode 139 with Dani Shapiro who discovered she was donor conceived, then you’ll also enjoy more shocking discoveries from DNA testing in a new podcast I love, BioHacked: Family Secrets. It’s a brand new podcast all about hidden ancestry, medicine, and technology. The show follows the children of anonymous sperm and egg donors — some with dozens or hundreds of half-siblings — who accidentally learn the truth because of commercial DNA kits like 23andMe. The podcast drops some bombshells...and shows how new technology is unraveling the deep, dark secrets of the baby business. Along with scandalous personal stories, BioHacked: Family Secrets also reveals unexpected ethical, scientific, and political questions. It’s a vital listen for anyone who loves wild stories about science, tech, and history...or even just messy family drama. You can find BioHacked: Family Secrets...wherever you’re listening right now. New episodes drop every Wednesday.

Dr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen, a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease. Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Method of the Year 2020"! Dr. Emanuel has spent the past decade developing high-throughput spatial profiling technologies including extending Vizgen’s MERFISH (Multiplexed Error-Robust Fluorescence in situ Hybridization) technology to profile 10,000 genes in the same sample. He received dual undergraduate degrees from the University of Colorado, and a Ph.D. in Biophysics from Harvard University. On This Episode We Discuss: Single-cell spatial genomics Difference between sequencing genes and analyzing spatial gene expression Insight for researchers through gene expression analysis MERFISH & MERSCOPE Limitations of the testing Areas of research that MERFISH can be applied to How can researchers get access to a MERSCOPE Platform If you’re interested in learning more about Vizgen’s technology, visit their website to play around with the MERSCOPE Vizualizer, and check out their papers on mapping the brain and how MERFISH was demonstrated on 10,000 genes. Keep up to date with the latest developments at Vizgen by following them on Twitter, Facebook, and LinkedIn, and connect with our guest, Dr. George Emanuel on Linkedin! Stay tuned for the next new episode of DNA Today on April 8, 2022 where our host, Kira Dineen, will be on the other side of the mic. She will be interviewed by James Fodor of The Science of Everything Podcast about genetic testing. New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED) Sema4 offers an extensive portfolio of health information solutions, including pre-clinical and clinical trial support, analytics for actionable insights, and advanced sequencing services. Sema4’s family of precision oncology products and services, Sema4 Signal®, provides data-driven care solutions with advanced analytics, digital tools, and exome-based somatic and hereditary cancer genomic tests. Learn more about their mission at Sema4.com. Sema4, a patient-centered health intelligence company. (SPONSORED)

World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. On This Episode We Discuss: The difference between WES and WGS How WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting Situations in which trio testing is helpful for WGS Prenatal WGS The future of newborn screening WGS for hereditary cancer syndromes How people learn more about PerkinElmer’s WGS Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn. Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit, visit picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on Episode #174 of DNA Today! (SPONSORED) Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of “DNA Today”. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) Polygenic risk scores (or PRS) are a powerful way to identify an individual’s risk of common disease by analyzing up to millions of genetic variants spread across the genome. Allelica has launched the first PRS test on the market to calculate ancestry-specific PRS for breast cancer, prostate cancer, coronary artery diseases, Type 2 Diabetes and Alzheimer’s disease and deliver the results in a clinical-grade report. Order your test today at order.allelica.com. For 25% off AND free shipping, use code “DNATODAY” at checkout. Allelica: Empowering the next generation of clinical genomics. Check out Allelica’ interview about PRS with co-Founder and CEO Giordano Bottà on Episode #168 of “DNA Today”! (SPONSORED)

We are ecstatic to introduce this week’s guest, Lauren Potter! You might know Lauren as Becky Jackson from the TV show Glee. She was in all six seasons playing a character who, like her, has Down Syndrome! After graduating high school and attending college in California, Lauren began acting, starring in her first film at the age of 16. In 2012 she was nominated for a SAG award in the Ensemble in a Comedy Series category for her work in Glee, and she also received the SAG/AFTRA Harold Russell Award at the 2012 Media Access Awards On top of being a fabulous and successful actress, Lauren is also a fierce advocate. President Obama appointed her to the President’s Committee for People with Intellectual Disabilities. She has advocated with AbilityPath, Best Buddies International, the National Down Syndrome Society, The American Association of People with Disabilities, and Special Olympics. We are honored to have Lauren on the show, and the timing couldn’t be more perfect with World Down Syndrome Awareness Day coming up on March 21st! This day was chosen because people with Down Syndrome have three copies of chromosome 21, so the 21st day of the 3rd month. On This Episode We Discuss: What it is like growing up with Down Syndrome Lauren’s experience auditioning for the role of Becky on Glee What Lauren wants people to know about how the R word can affect people Lauren’s advocacy work with Best Buddies and the President’s Committee for people with Intellectual Disabilities “A Guest Room” a short film where Lauren was the lead actress and executive producer Inspirational advice for people with Down Syndrome Advice for parents who may have just found out their baby has Down Syndrome Be sure to follow Lauren on Twitter, Facebook, and Instagram to stay up to date on her advocacy work and latest acting roles! Stay tuned for the next new episode of DNA Today on March 25, 2022 where we’ll be discussing whole genome sequencing with world-renowned geneticist Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics. New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED) Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “The DNA Guide for Adoptees” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear Brianne share her insight from her book in Episode 103 of DNA Today! Learn more atWatershedDNA.com where you can also book your consult today with Brianne. (SPONSORED)

This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant, a service that dedicated to helping patients and families understand unique genetic variants and provides different avenues of informing family, or even people distantly related, of possible inherited risk of diseases like cancer. Dr. Shirts is an Associate Professor of Laboratory Medicine at the University of Washington. His research focuses on integrating complex genetics knowledge into clinical care. His main goal is to help prevent all hereditary cancer. He is currently working to improve strategies to help people with inherited cancer risk connect with close and distant relatives, classify rare variants, and to improve how genetic information is presented to both patients and clinicians. In his clinical role, he is one of a small group of geneticists and laboratory pathologists who supervise BROCA and ColoSeqTM tests for hereditary cancer risk at the University of Washington. On This Episode We Discuss: Common cancer genes The importance of sharing genetic test results with family members What should people consider before posting their variant online and how GINA protects them The inspiration behind creating “Connect My Variant” Why it is helpful to connect with people who have the same variant How genetic counselors and other healthcare providers can share “Connect My Variant” with their patients To connect with other individuals with the same mutations, visit the Connect My Variant message board, and to learn more about cancer genes visit The American Cancer Society and Black Cancer Genes (featured on Episode #159 of DNA Today). Check out Heather Hample’s article Dr. Shirts mentioned about families in Ohio with Lynch syndrome. Keep up to date with Connect My Variant on Facebook and Instagram and connect with our guest Dr. Shirts on LinkedIn. Stay tuned for the next new episode of DNA Today on March 18, 2022! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes since 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. Check out Picture Genetics’ interview about pharmacogenomics with their Director of Genetic Counseling, Gregory Kellogg on episode #174 of DNA Today! (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) Today I want to recommend a podcast to you called Our Opinions Are Correct hosted by Charlie Jane Anders and Annalee Newitz.Every other week, Our Opinions Are Correct dissects a different topic related to science fiction, science, and everything in between. They've talked about everything from how to write a good fight scene, to the death of the universe. Charlie Jane Anders is an award winning author of several science fiction novels, including recently released Victories Greater than Death. Annalee Newitz is an award winning science journalist who writes for The New York Times and the Atlantic. Together, they will befriend cosmic monsters! Subscribe to Our Opinions Are Correct on Apple Podcasts, and anywhere else you listen to podcasts! (SPONSORED)

This week we’re joined by Gregory Kellog of Fulgent Genetics. In this episode we explore pharmacogenomics. Gregory is the Director of Genetic Counseling at Fulgent Genetics, a technology-based genetic testing company. Prior to serving as the director, Gregory served as the Genetic Counseling Manager at Fulgent, and worked in various roles for other genetic testing companies over the last 7 years including Recombine, Phosphorus, and Illumina. He completed his master of science in human genetics and genetic counseling at Stanford University School of Medicine. On This Episode We Discuss: What is pharmacogenomics? Aspects of metabolizing drugs that pharmacogenomic screening evaluates (i.e. Toxicity, Lack of Efficacy, Hypersensitivity) How pharmacogenomics testing decreases the risk of adverse drug reactions Genetic counseling for pharmacogenomics Roadblocks (ethical, social, legal, privacy) impacting widespread use of pharmacogenomic testing Picture Genetics’ PGx kit You can check out the CPIC Guidelines and the FDA Table of PGx Associations that Greg mentioned during the episode. ​​Discover if the medication you take might be affected by your genetics. See the full list of genes evaluated by Picture Genetics’ PGx test here. Learn more about Picture Genetics on their website, and follow them on LinkedIn, Twitter, Facebook, and Instagram, and keep up with our guest, Gregory Kellog, on LinkedIn. Stay tuned for the next new episode of DNA Today on March 11, 2022 where we’ll be chatting with Brian Shirts from ConnectMyVariant about the Hereditary Cancer Variant Network! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Joining us for the last episode of rare disease month is Keith McArthur. Keith is the co-founder and CEO of CureGRIN, a non profit rare disease organization. He is also a published author and he’s a fellow science podcaster, Unlocking Bryson’s Brain (one of our favorite podcasts!). But most importantly, Keith is the loving father of Bryson, who was diagnosed with a GRIN1 related disorder. Keith McArthur got a second chance at life in 2017 when his little sister donated her kidney for transplant. Now, he writes and podcasts about his journey to becoming happier and healthier. Keith is the creator of My Instruction Manual — a website, podcast, and book series providing high-quality, personal-development content. Previously, Keith has worked as an award-winning journalist, a social media and public relations strategist, and a senior executive at one of Canada’s largest companies. He has written and edited several books, and serves as the president and publisher of FanReads Inc. His newest self-help book is Winning Resolutions: Achieve Your Biggest Goals and Wildest Dreams Once and For All. Keith’s previous book — 18 Steps to Own Your Life — was a silver medalist in the Non-Fiction-Motivational category of the 2018 Readers’ Favorite Awards. On This Episode We Discuss: GRIN1 mutations and GRIN1-related disorders Bryson’s diagnostic odyssey Connecting with other GRIN families Keith’s motivation for starting CureGRIN How the public interacts with individuals in the rare disease community GRIN1 research in mice and the “Bryson” mouse To learn more about GRIN1 research, check out GRIN Therapeutics, which focus entirely on developing potential treatments for the GRIN community. You can also head over to Homology Medicines, Inc that Keith mentioned during our recording. Keep up with Keith on Twitter, LinkedIn, and Instagram, and stay up to date on what’s happening at CureGRIN by following them on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on March 4th, 2022 with Fulgent Genetics about Pharmacogenomic testing! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Have you heard of the Blueprint Genetics My Retina Tracker Program? This program offers eligible patients in the US no-cost comprehensive genetic testing and counseling for their inherited retinal degeneration. The My Retina Tracker Program Panel includes 351 genes, mitochondrial DNA, and non-coding variant assessment. Stay tuned for our interview with Blueprint Genetics about the My Retina Tracker Program and the patient registry on a future episode of DNA Today. In the meantime, you can learn more at BlueprintGenetics.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com.

DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz. With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas. Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world. Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine. Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library. In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address: The latest technological advances helping to reduce the diagnostic odyssey for patients The greatest challenges faced by patients and clinicians and methods to overcome them The role of bioinformatics in the analysis of large datasets generated from sequencing The role of rare disease diagnosis in precision medicine. Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips’ Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson’s Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative pro

In honor of Rare Disease Month we are continuing to highlight different rare diseases. This week we explore Farber Disease with Dr. Alex Solyom, Senior Vice President of Rare Disease Development at Aceragen, and Katie Crosby, is a certified genetic counselor and the Associate Director of Patient Engagement. Dr. Alex Solyom is a pediatrician with real-world expertise in rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. He has over 13 years of clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development. In his role at Aceragen, he is involved in the strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affairs. He has been the architect of rhAC clinical development program from its inception and is responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA with a focus on delivering benefit to patients and other stakeholders efficiently and effectively. Katie Crosby joined Aceragen with over 8 years of experience working in clinical care and research for rare diseases. As a board-certified genetic counselor, Katie specializes in supporting patients and families to understand and navigate their genetic diagnoses.Before joining Aceragen, Katie served as a clinical genetic counselor and lysosomal storage disease program coordinator in the Rare Disease Institute at Children’s National Hospital. During her time there, she supported patients through diagnosis and long-term management as well as managed multiple clinical trials, natural history studies, and patient registries for lysosomal storage disorders, including Pompe disease, Gaucher disease, Fabry disease, MPS II, MPS IVA, MPS VII, and Farber disease. Katie also worked as a tele-medicine genetic counselor and team lead at Metis Genetics. Katie received a Bachelor of Science in biology from Villanova University and a Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. On This Episode We Discuss: Farber disease and the larger family of lysosomal storage disorders Diagnosis and misdiagnosis of Farber disease The inheritance pattern of Farber disease and screening for the disease Available treatments for Farber disease and those in development by Aceragen Requirements for Aceragen’s no-cost genetic testing How Farber disease research can provide general information for other diseases Head over to their website Aceragen.com to learn more, including their page about Farber Disease and follow them on Twitter. If you would like to contact Aceragen directly at [email protected]. Stay tuned for the next new episode of DNA Today on February 18, 2022 where we’ll be discussing advances in rare disease diagnosis! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Every pregnancy has a chance to have a genetic abnormality or complication. Mitera empowers you to make the most informed reproductive decisions through their at-home genetic tests, without needing your doctor’s order. These tests include non-invasive prenatal screening (Mitera’s Peaches&Me) and carrier screening (Mitera’s 23pears). Request your own kit at miteragenetics.com and use code “DNATODAY” for 10% off. Mitera. Predict. Prevent. Prepare. (SPONSORED) PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED) I’m involved in some entrepreneur groups in the Greater New York City area. Recently, I attended a pitch event for women entrepreneurs and was so inspired by one in particular who founded PATCH10. PATCH10 has created high quality clothing to help people look and feel their best while undergoing medical treatment. PATCH10’s unique clothing designs make accessing intravenous areas simple. They eliminate the need to change into a hospital gown (which let’s be honest, no one likes) a

To celebrate February as rare disease month we will be interviewing leaders in rare diseases throughout the month! In this episode we explore new research in one of the mitochondrial disorders, primary mitochondrial myopathy (PMM). Joining us for this conversation is Dr. Alejandro Dorenbaum, the Chief Medical Officer of Reneo Pharmaceuticals, who is currently studying an investigational therapy for PMM. Dr. Dorebbaum is a board-certified allergist-immunologist with over 25 years of experience in drug development and clinical trials. Prior to serving as the CMO of Reneo Pharmaceuticals, he served as the Chief Medical Officer of several other pharmaceutical companies, where he achieved proof-of-concept in clinical trials for novel therapeutic antibodies targeting inflammatory cells. He received his medical degree from the National Autonomous University in Mexico City, and completed his residency in pediatrics at the University of Texas Health Science Center and held fellowship in allergy and immunology at Baylor College of Medicine. He maintains an active academic position as Clinical Professor in Pediatrics at Stanford University School of Medicine. On This Episode We Discuss: The function of the mitochondria Challenges of living with a mitochondrial condition How primary mitochondrial myopathies (PMM) are unique How the percentage of affected mitochondria correlates with the severity of symptoms What Reneo doing to help diagnose more patients with PMM Reneo’s STRIDE study for treatment of PMM To learn more about the STRIDE study, check out the study website or search for it on Clinicialtrials.gov. Be sure to follow Alejandro on LinkedIn and Reneo Pharmaceuticals on Twitter. Stay tuned for the next new episode of DNA Today on February 11, 2022 where we’ll be discussing Farber disease with Aceragen! In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Vizgen is dedicated to pioneering the next generation of genomics, providing tools that demonstrate the possibilities of in situ single cell spatial genomics. These tools are enabling researchers to gain insight into the biological systems that govern human health and disease. Stay tuned for our full episode with Vizgen where we explore single-cell spatial genomics. Get a sneak peak by visiting their website at ​​vizgen.com. Vizgen, leaders in spatially resolved, single-cell transcriptomics (SPONSORED). Curious to take a peek inside your body's drug response? Then you should check out Picture Genetics’ PGx Test. Powered by clinical laboratory Fulgent Genetics, Picture’s PGx Test is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PGx test kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow (SPONSORED). PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com (SPONSORED).

On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics. Dr. Ivan Liachko is the Founder and CEO of Phase Genomics and has worked in the genetic/genomic research field for over 20 years. He has authored over 20 peer reviewed papers and created multiple patents specializing in the field of microbial genomics and synthetic biology. Dr. Liachko is one of the original inventors of the Hi-C assembly and metagenomic deconvolution and has over a decade of experience in scientific management and mentorship. He received his PhD from Cornell University. Our other guest is Dr. Stephen Eacker, VP of Research and Development for Phase Genomics, who is also a lifelong scientist. Prior to starting his role as VP, he served as a Senior Research Scientist and was part of the faculty at Johns Hopkins University where he was the Principal Investigator of a laboratory focused on using the ribosome as a platform for understanding neurobiology. He received his PhD from the University of Washington in Genome Sciences/Genomics. On This Episode We Discuss: Next generation cytogenomic technologies like CytoTerra and OncoTerra Why ultra-long-range sequencing is advantageous compared to other approaches Types of chromosomal abnormalities that can be identified with this technology Identifying genetic changes that lead to pregnancy losses and how identifying these changes can help with future pregnancies How researchers can get early access to CytoTerra Interested in today’s episode topic? Watch this webinar from Phase Genomics about next generation cytogenomics for reproductive genetics and oncology, and read this press release about Phase Genomics’ new platform to detect chromosomal abnormalities. To learn more about Phase Genomics, be sure to follow them on Twitter, Facebook, LinkedIn and Instagram and keep up with our guests, Dr. Ivan Liachko on Twitter and LinkedIn, and Dr. Steve Eacker on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on February 4, 2022 where we’ll be discussing mitochondrial disorders to kick off rare disease month! In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Aceragen is a rare disease biopharmaceutical company. Aceragen takes on rare, orphan diseases that typically have no approved treatments, and works to develop therapies to help patients. The needs of patients who suffer from under-served rare diseases drive Aceragen’s mission. Be sure to tune into our episode with Aceragen in February as we celebrate rare disease month! Learn more at aceragen.com. Aceragen working for a better life for patients with rare diseases. (SPONSORED) PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com. (SPONSORED) Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (SPONSORED)

Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica PRS clinical academy covering the research behind PRS to clinical applications. You can enter by looking for us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th. Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores. Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature. He is a co-founder and CEO of Allelica, which created a software to help clinical genetics labs to perform polygenic risk score analysis. On This Episode We Discuss: Defining polygenic risk scores (PRS)? How PRSs are empowering the next generation of clinical genomics Types of conditions that PRS can be calculated for Who can benefit the most from PRSs How Allelica is addressing the underrepresentation of people of Non-European descent in genetic studies with PRS Using PRS to assess risk for heart disease and cancer To learn more about Giordano, check him out on Twitter, LinkedIn and Instagram, and stay up to date with Allelica on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on January 28, 2022 where we’ll be discussing cytogenomics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.org. (SPONSORED) Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are closing for the spring cohort, but there are still spots available for summer and fall 2022. (SPONSORED) PerkinElmer Genomics is a state-of-the-art biochemical and molecular genetics laboratory that provides newborn screening and genomic testing services around the world. With over seven million newborns screened since 1994, PerkinElmer Genomics’ laboratory pairs decades of newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Learn more at PerkinElmerGenomics.com (SPONSORED)

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Cancer Genetics”. Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to translate cancer genetics knowledge into realizing precision medicine. To prepare practitioners for the future of cancer genetics, PhenoTips invited Dr. Banu Arun and Dr. Mark Robson to share their insights. Dr. Arun is a Professor in the Department of Breast Medical Oncology, Co-Medical Director of the Clinical Cancer Genetic Program, and Section Chief of Breast Genetics, Prevention, and Screening at the University of Texas MD Anderson Cancer Center. Hailed by Forbes as one of the top 30 Breast Medical Oncologists in the United States, she has received the FASCO award recognition in 2020 from the American Society of Clinical Oncology (ASCO) and the ASCO-American Cancer Society 2021 Award. Dr. Arun has more than 200 peer-reviewed publications with research focusing on identifying risk biomarkers for breast cancer, and characterizing risk factors in high-risk women with hereditary gene mutations as well as assessing their breast cancer biology. In addition she has reviewed for prestigious journals, such as BMJ, JCO, Cancer, Cancer Prevention and Epidemiology, and served in several committees including her current position as the Co-Chair for the SWOG Prevention and Epidemiology Committee. Dr. Robson is the Chief of the Breast Medicine Service in the Department of Medicine at Memorial Hospital, New York, Attending Physician on Breast Medicine and Clinical Genetic Services, and a Member of the Memorial Sloan Kettering Cancer Center. He is an associate editor for the Journal of the National Cancer Institute and a Fellow of the American Society of Clinical Oncology (ASCO), as well as a past chair of the ASCO Ethics Committee. His clinical research is on the optimal application of germline information to the management of cancer patients. He has been a lead investigator for trials of PARP inhibitors in patients with BRCA mutation–associated breast cancer and is currently developing new models for the acquisition of germline information, including "mainstreaming" through test ordering by primary oncology providers and broad genomic screening in the context of somatic mutational profiling. In addition, he is investigating the use of polygenic risk scores in facilitating decision-making among women with or without an inherited predisposition. In this webinar moderated by Kira Dineen, Dr. Arun and Dr. Robson will illuminate the future of cancer genetics by discussing: The latest technological advancements in cancer genetics. Barriers in the specialty and methods to overcome them. Strategies to prepare practitioners for the future of cancer genetic care. Hope to see you live for the next installment of Phenotips Speaker Series on January 18th about ending the diagnostic odyssey! PhenoTips' Chief Operating Officer and VP of Scientific & Medical Affairs, Dr. Pawel Buczkowicz, will be speaking with Dr. Ana Cohen, Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children's Mercy's Center for Pediatric Genomic Medicine. Register here for the live event on January 18th at 11am-12pmEST. Stay tuned for the next new episode of DNA Today on January 21st, 2022 with Allelica’s Giordano Bottà to discuss polygenic risk scores! New episodes are released on Fridays. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you want to connect with other people who have the same genetic variant as you? You should check out “Connect My Variant”, it’s an online resource that allows you to do just that. “Connect My Variant” also provides different avenues of informing your family of possible inherited risk of disease. This includes helping find where your variant came from and finding distant cousins that may also be at risk. The University of Washington has supported the “Connect My Variant” project in an effort to help patients and families understand where their unique genetic variants come from. Check out it at ConnectMyVariant.com. (S

Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts! We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality. To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on the podcast to discuss beta thalassemia. Radhika is a genetic counselor and patient advocate for thalassemias. She worked as the National Director of Patient Services for the Cooley's Anemia Foundation prior to joining the faculty of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College (where she met our host Kira Dineen!) Radhika has a personal tie to the community as she has beta thalassemia major and frequently speaks on behalf of the New York Blood Center as a volunteer blood donor advocate. On This Episode We Discuss: Types of thalassemias How beta thalassemia has impacted Radhika’s life The evolution of treatments for beta thalassemia and their impact on life expectancy for those with the condition The genetic difference between sickle cell and beta thalassemia What Radhika wants genetic counselors and other healthcare providers to understand about the experience of living with beta thalassemia The importance of blood donation and requirements to be a donor Learn more about thalassemia in Radhika Sawh’s 2021 paper, “Transfer of care for people with severe forms of thalassemia: Learning from past experiences to create a transition plan” and check her out on LinkedIn. Stay tuned for the next new episode of DNA Today on January 14th where we’ll be discussing the future of cancer genetics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 and 2022 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Spring 2022 cohort starting January 31st, and a limited number of spots are still available. (SPONSORED) Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED) Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED)

In this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk. On This Episode We Discuss: Sandra’s personal experience with breast cancer The difference between Sanger Sequencing and Next Generation Sequencing Sequencing versus genotyping Various number of genes on a hereditary cancer panel How the availability and accessibility of genetic testing differ around the world Dr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She formerly held positions at Illumina, most recently as Staff Segment Marketing Manager Oncology. Sandra holds a Ph.D. in molecular biomedicine, is a mother of two young children, and breast cancer survivor who advocates for genetic testing in developing countries and among ethnic minorities. Learn more about Sandra by reading this Illumina article about her journey, or check her out on LinkedIn. Did today’s episode topic peak your interest? Read the article, Inherited Cancer in the Age of Next-Generation Sequencing, that inspired our questions! Stay tuned for the next episode of DNA Today in the new year on January 7th, 2022! We’ll be joined by genetic counselor and patient advocate Radhika Sawh to discuss Thalassemia and blood donor awareness. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial Myopathy and how your patients can participate by going to pmmstudy.com. (SPONSORED) Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED) Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. ThermoFisher Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED) Have you heard of the new app Wisdom? It’s a social audio app for open access to mentorship. You can talk live with experts about anything. Our host, Kira Dineen, will be giving her first wisdom talk on January 5th at 5:30pmET / 2:30pmPT. You can tune in live by downloading the Wisdom app, then following me @DNAtoday. That way when she goes live on January 5th you will get a notification and can jump in. Podcasts can be very one way, whereas Wisdom allows us to chat. She wants to answer your questions about genetics, genetic counseling including grad school, or the podcast. It will be a live QnA! We can’t wait to talk to you then! (SPONSORED)

This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research. On This Episode We Discuss: How Parkinson’s Disease (PD) affects the body Genes that play a role in the development of PD Genetic testing for family members of patients with PD The PD GENEration project and how it is helping people with PD Underrepresentation of Hispanic people in PD genetic research How to achieve more inclusivity with research in the PD space Learn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing. Check out more about the PD GENEration on the Parkinson’s Foundations website, including how to enroll in the study. If you have questions about enrollment send them to [email protected]. PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://parkinson.org/pdgene To stay up to date on the latest PD news and research follow The Parkinson’s Foundation on Twitter, Facebook, LinkedIn, and Instagram. And be sure to check out Dr. Beck’s, and Dr. Mata’s on Twitter! Dr. James Beck is the Senior Vice President and Chief Scientific Officer at The Parkinson's Foundation. In his role, Dr. Beck sets the strategic direction for the Parkinson’s Foundation research vision, and oversees a portfolio which has guided more than $360 million in research to explore what causes Parkinson’s disease (PD) and how to improve treatments, and he has played an integral role in positioning the organization as a world’s leader in accelerating Parkinson’s research. He is currently an Adjunct Associate Professor in the Department of Neuroscience and Physiology at the New York University School of Medicine. He holds a BS from Duke University and a PhD from the University of Washington, Seattle. Dr. Ignacio Mata is a member of the Parkinson’s Foundation Hispanic Parkinson's Advisory Council, which develops strategies to increase clinical research education, awareness and participation among Hispanic people with Parkinson’s throughout the United States. He is also an Assistant Professor of Molecular Medicine at the Cleveland Clinic Lerner College of Medicine. He received his BSc and PhD degrees from the University of Oviedo, Spain. His current research focuses on the identification of genetic risk factors for several quantitative traits involved in cognitive impairment in PD and the identification of novel genes causing familial forms of PD. Stay tuned for the next new episode of DNA Today on December 17, 2021 where we’ll be discussing sequencing to assess inherited cancer risk! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Did you know genetic changes account for an estimated 5-10% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics offers Picture PD Aware, an at-home DNA test for Parkinson’s disease risk. Powered by clinical laboratory Fulgent Genetics, Picture PD Aware is easy to order and understand, with hassle-free clinician involvement and good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow (SPONSORED). Unfortunately, there is an underrepresentation of people of Non-European descent in genetic studies. We’ve explored this in multiple episodes of DNA Today. Allelica is also very aware of this issue and how polygenic risk scores developed for people who are of European descent cannot be applied to other ancestries without further validations. To directly address this, Allelica developed new models to improve predictive power in Non-European people. Allelica validated their polygenic risk scores in Non-Europeans population to provide ancestry specific genetic risk assessment. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED) Do you have patients with Primary Mitochondrial Myopathy? There is a new clinical study looking for people with PMM to enroll. People with Primary Mitochondrial Myopathy can experience muscle weakness or exercise intolerance. This study is assessing the efficacy and safety of a drug to help patients walk further by improving their muscle function. Find out about the study for Primary Mitochondrial

On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss: Genetic causes of Prader-Willi Syndrome (PWS) Challenges faced by caregivers of patients with PWS PWS symptom management Harmony Bioscience’s phase 2 clinical study in PWS Requirements for study participation Check out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey. Refer your patients to Knowrare to join the study here. Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Rachel Pastiloff is a mom of 2, who lives in southern California. She’s active on Instagram, teaching hard, cold facts of living with a child with a rare disease and she is passionate about advocating for her 15 year old son, Blaise, with Prader-Willi Syndrome and the entire family’s wellbeing. Krystle Davis is the senior manager of clinical operations at Harmony Biosciences where she oversees the execution of clinical operations of a phase 2 clinical trial in Prader-Willi syndrome. Krystle has over 12 years of combined experience working in the biotechnology, pharmaceutical, and clinical research industries and she enjoys working in clinical research, knowing her work may make a difference in someone’s life. She completed her Bachelor of Science in Biology at Meredith College and a Master of Science focused in Clinical Research at Campbell University. Understanding how our DNA contributes to disease risk is no longer science fiction. Polygenic Risk Scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use PRS to assess how a person’s DNA influences their risk of common diseases.Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems, clinical laboratories and research institutes can be equipped with Allelica’s cutting-edge tools to deploy PRS to identify more people at high risk to reduce the impact of common diseases. Interested in learning more? Visit Allelica.com. Allelica: Empowering the next generation of clinical genomics. (SPONSORED) Want to chat with genetic counselors? You should attend the virtual open house at Sarah Lawrence College! In this you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The open house is on December 7th. Go to SLC.edu/DNAtoday, or use the links in the show notes, to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Do you work in cytogenetics? Thinking about applying to new jobs? Well I found a great position for you at UNC Health. In this Senior Cytogenetic Technologist position you will join a team of 20 fellow technologists and specialists. The Cytogenetics Lab at UNC Health performs prenatal, postnatal, and cancer cytogenetic testing on about 5,000 cases every year and you have the opportunity to perform conventional cytogenetics, FISH and microarray testing. To learn more about the position and submit your application, use the link in our show notes. You can also access the link at DNApodcast.com. (SPONSORED)

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”. This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast approaching future, PhenoTips invited Amy Sturm and Erynn Gordon to share their experience-based insights. Erynn Gordon is currently the Founder and President of Ripple Genetics Consulting, with prior VP and Presidency roles at Genome Medical, 23andMe, and the Coriell Personalized Medicine Collaborative. With 20 years of experience, Erynn has been deeply engaged in the genetic counseling community, having served as past president of the American Board of Genetic Counseling and on the Board of Directors for the National Society of Genetic Counselors. Amy Sturm is a Genetic Counselor and Professor within the Genomic Medicine Institute at Geisinger with nearly 20 years of experience in the field of genetic counseling. Amy was the 2019 President of the National Society of Genetic Counselors, and currently serves as the Chair of the Advisory Board to the NIH All of Us Research Program’s Genetic Counseling Resource and Co-Chair of the NLA Genetics Working Group. In addition, she is on the NLA Scientific Statements Committee and the American Heart Association’s Advocacy Coordinating Committee and Genomic and Precision Medicine Leadership Committee of the Council on Genomic and Precision Medicine. In this discussion with Kira Dineen, Amy Sturm, and Erynn Gordon will draw on their experiences to provide insights on: Historic and current uses of technology in genetic counselling Future applications of technology that can shape the practice of genetic counselling The role population genetics will play in precision medicine Challenges and barriers to mainstream integration of genetic counselling The themes covered in this Speaker Series session were inspired by the Laura Hercher 2020 paper, “Pondering the future of genetic counseling: An adolescent field comes of age”. As an amendment to the chatbots portions of the panel discussion, Amy Sturm would like to clarify that her collaborations with Clear Genetics began in 2017. During the discussion, she misspoke and stated that chatbots have been around since 2007. Stay tuned for the next new episode of DNA Today on November 19th where we learn about Prader-Willi Syndrome. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica’s cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED) Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Preparing for a career

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”. This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools. As genetic testing becomes increasingly common, genetic counselors face increasing demand that they struggle to meet due to low numbers of genetic professionals in clinical care. Supplementing genetic counseling practice with digital tools is necessary in order to provide essential services while mitigating burnout, but genetic counselors and genetic departments face significant barriers to adoption. To help lessen these barriers, PhenoTips invited genetic counselors Scott Weissman, Amy Taylor and Andrew McCarty to share their experiences becoming digital champions, gathering departmental support, and the clinical impact their departments have experienced since adoption. Dr. Amy Taylor is the Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust. With over a decade of experience in Genetic Counseling, she heads a team of 14 Genetic Counsellors who provide high quality service to patients in the East Anglia region. Her specialist interests include cancer genetics, cardiac genetics and neurofibromatosis type 2, and for the last six years she has been a member of the UK Cancer Genetics Group Council. Amy’s articles have been published in prestigious journals such as Clinical Genetics and Journal of Medical Genetics. Andrew McCarty is a Laboratory Genetic Counselor at Perkin Elmer Genomics. He also operates a private practice based out of Pittsburgh called Clover Genetics working to improve access to genetic services. With a passion for providing genetic education to healthcare providers, students, and individuals seeking care, Andrew has authored numerous scholarly articles, including research on the use of the digital tool Proband in pedigree construction and assessment published in the Journal of Genetic Counseling. Scott Weissman, an NSGC Digital Ambassador, has over 15 years of experience in adult-onset genetic disorders and cancer genetics. He is the founder Chicago Genetic Consultants, LLC and the Cancer Services Lead at tele-genetics provider Genome Medical. Scott has worked with patient advocacy groups (FORCE, Bright Pink, CCARE) as well as lectured across the country on a variety of topics related to genetic counseling and testing. Scott’s scholarly articles have been published in prestigious journals such as Genetics in Medicine, Cancer, The Journal of the American Medical Association, Journal of Genetic Counseling, and many more. In this panel discussion moderated by DNA Today’s Founder, Producer and Host, Kira Dineen, CGC, Amy Taylor, Scott Weissman, and Andrew McCarty draw on personal experiences to provide insights on: The clinical impact of digital tools in genetic departments through examples from their years of practice Their journey of gathering departmental support for adoption of digital tools The techniques that allow genetic counselors and genetic departments to overcome challenges in digital tool adoption. Stay tuned for the next new episode of DNA Today on November 12th! This episode will be another insightful installment of the PhenoTips Speaker Series where we explore the future of genetic counseling with Amy Sturm and Erynn Gordon. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. More clinical studies for genetic conditions can be found at KnowRare.com. (SPONSORED) Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created

Joining us this episode is Dr. Sura Alwan, the Co-Director of TERIS, The Teratogen Information System, a clinical resource that assesses teratogenic risks of pregnancy exposures on the fetus. On This Episode We Discuss: Causes and prevention of birth defects Teratogens Impact of teratogenic exposure on fetal development Medications and vaccinations during pregnancy Exposure to THC during pregnancy The TERIS database Check out TERIS, a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections, including 200 of the most frequently prescribed drugs. Use code “DNAToday” for your free no obligation 2-week evaluation license. To learn more, visit the TERIS website, or check them out on Twitter, Facebook, and LinkedIn, and be sure to navigate to their COVID-19 virus and vaccine summary for more information and Teratology studies. In addition to serving as the co-director of TERIS, Dr. Alwan holds professional positions at the University of Washington and the University of British Columbia. Her background education is in Human Genetics where she received a BSc Honours degree from the University of Nottingham in the UK and an MSc in Medical Genetics from the University of Glasgow, UK. Dr. Alwan acquired her PhD in the area of birth defects epidemiology and teratology from the University of British Columbia in BC, Canada. Dr. Alwan’s research interests revolve around identifying exposures in pregnancy that may pose a risk to the developing fetus and contribute to causing birth defects and other adverse pregnancy outcomes. Stay tuned for the next new episode of DNA Today on November 5, 2021, where we’ll feature an episode of the Phenotip’s Speaker Series about the adoption of digital tools in genetic counseling! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Picture Genetics is a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids (such as cystic fibrosis or fragile X syndrome). Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. (SPONSOR) Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSOR)

We are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award. A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People’s Choice Award, so it truly is thanks to your support that we won. It’s been such a fun journey over the last 9 years hosting and producing DNA Today and it’s because of you listeners that we have amazing sponsors who keep the show running. Thank you all again! We have so many more episodes to bring you and we hope you keep tuning to learn more about genetics. In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka DenaDNA). Erika Stallings is an attorney, writer and BRCA awareness advocate. In June 204 she learned that she carried a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85% lifetime risk of developing breast cancer. In December 2014 she underwent a preventative double mastectomy which lowered her risk of breast cancer to less than 5%. Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. You can also hear her on episode 155 of DNA Today discussing genetic counseling grad school. On This Episode We Discuss: Black Cancer Genes Genetic testing for breast cancer Breast cancer risk among BRCA1/2 carriers Racial disparities in breast cancer diagnosis Genes prevalent in the black community Raising awareness about genetic counseling in the black community To learn more about Black Cancer Genes, visit their website. You can check out Erica’s work on Twitter and Instagram, and see what Dena is up to on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on October 29th, 2021 where I’ll be joined by Dr. Alwan of TERIS to discuss teratogens! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it’s like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master’s degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on October 28th followed by December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Picture Genetics is a unique DNA testing service. Their Picture Wellness kit allows you to learn your genetic risks for cancer and cardiovascular conditions. Including the BRCA genes that we talk about throughout this episode. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your kit go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. (SPONSORED) The Illumina mission is to improve human health by unlocking the power of the genome. With Illumina’s sequencing-by-synthesis technology, they have only just begun to discover the true impact of genomics in areas including oncology, reproductive health, genetic disease, agriculture, microbiology, and beyond. Knowing the discoveries that lie ahead is what inspires Illumina to push the boundaries of their imagination and constantly drive innovation. To learn more, visit illumina.com. (SPONSORED) Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be stud

In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon. Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer. Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company’s scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis. On This Episode We Discuss: Overview of ALS How ALS is diagnosed Causes of ALS Genetic testing for pathogenic variants Expansion of the list of causative genes and variants for ALS Uncovered trends in age at onset and rate of progression New data on the prevalence of gene mutations in ALS Validation of the novel utility of the genomic landscape for ALS To learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, visit their website, or check them out on Twitter and LinkedIn. Stay tuned for the next new episode of DNA Today on October 15th where we welcome Erika Stallings and Dena Goldberg to discuss the organization, Black Cancer Genes, in honor of breast cancer awareness month! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED) Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific’s Aspire program, it’s a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. See the show notes for terms and conditions and that link. Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)

The National Society of Genetic Counselors’ (NSGC) 40th annual conference occurred virtually this past week. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. You can also check out our recap episodes of 2020 and 2019. Guests Laura Hercher has been a genetic counselor for nearly two decades. She is also the host of fellow genetics podcast, The Beagle Has Landed. She is a faculty member and director of student research at the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, the country’s first and largest training program for genetic counselors. Hercher is a writer and commentator with publications including articles in Wired, Aeon and Scientific American as well as peer reviewed journals. She is a co-founder of the DNA Exchange, a blog for the genetic counseling community founded in 2009, which has grown to over 100,000 views in 2017. Sally Rodríguez is a licensed and board-certified genetic counselor who specializes in the area of reproductive genetics, with expertise in expanded carrier screening (ECS), noninvasive prenatal screening (NIPS), and preimplantation genetic testing (PGT). Sally was an early-stage employee at Recombine, a genetic testing laboratory focused on reproductive genetics, and developed and managed the lab’s ECS and NIPS offerings through the company’s acquisition by CooperSurgical. Currently, she serves as a genetic counselor at Sequence46, a PGT laboratory. She received her Bachelor's degree in Molecular Biology from Princeton University in 2009 and her Master's degree in Genetic Counseling from The Johns Hopkins University Bloomberg School of Public Health in 2013. Sally is an active member of NSGC, the American Society for Reproductive Medicine (ASRM), and the Minority Genetics Professionals Network (MGPN). NSGC 2021 Conference Session OD01: Advocating for Autonomy: Genetic Counselors as Champions for Comprehensive Reproductive Health with Laura Hercher Overview of Texas SB 8 (Abortion Ban) Texas SB 8 disproportionately affecting pregnant people Repercussions on genetic counseling from Texas SB 8 National impact on Texas SB 8 Jackson Women’s Health Organization vs Dobbs Increase in abortion laws vs public opinion Defining abortion reason bans To learn more about abortion law from Laura Hercher, check out The Beagle Has Landed her podcast episode with Jordan Brown. NSGC 2021 Conference Session B03: The Devil is in the Details: Race-Based Medicine and Healthcare Disparities in Genetic Counseling with Sally Rodríguez Comparing race/ethnicity based vs panethic carrier screening How laboratories use ethnicity in carrier screening Pitfalls of race/ethnicity based testing Issue with self-reported race/ethnicity Self-reported race vs genetic ancestry Calculate carrier residual risk of being a carrier based ethnicity Cause of disparities in residual risks Testing for genetic ancestry as part of carrier screening ACMG updated practice guidelines Downstream effects of disparities in carrier screening How healthcare providers can solve carrier screening disparity issues Other NSGC 2021 sessions mentioned during the episode: C02: Prenatal Testing: When Multiple Technologies Reveal More than Meets the Eye LabCorp sponsored with case presentations by Samantha Caldwell, Lila Dayani, and Deanna Hutchinson C03: 2021 Janus Lecture: “You Can Never Feel My Pain”: The History and the Future of Sickle Cell Disease. Presented by Barbara Harrison D02: The Routine Incorporation of Molecular Ancestry into Carrier Screening: Sema4’s Clinical Experience. Presented by Lisa Edelmann and Audra Bettinelli Stay tuned for the next new episode of DNA Today this Friday on October 1st where we explore the genetics of ALS with Genomenon! New episodes are released on the first and third Friday of the month, with some bonus episodes like this one! In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED) If you’re a healthcare provider helping pregnant patients you have inevitably been asked the question, “Can I take this medication during my pregnancy”? Then you need TERIS, a clinical electronic resource that contains

Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month! Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list. On This Episode We Discuss: Patient advocacy DMD heredity Founding Cure Rare Disease Current and developing treatments for DMD In-vitro versus in-vivo research Neutralizing antibodies To learn more about Rich, DMD, and Cure Rare Disease at cureraredisease.org. If you live in Canada, check out Muscular Dystrophy Canada at muscle.ca, which serves 50,000 Canadians impacted by neuromuscular disorders themselves, family members/caregivers, healthcare professionals, and researchers. They support individuals impacted by neuromuscular disorders by investing in research, delivering critical programs and services, and challenging public policy. Genomenon is a genomic health IT company powering precision medicine with genomics. Genomenon has designed the Mastermind Genomic Search Engine, which is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results. Genomenon also created the Mastermind Genomic Landscapes to inform pharmaceutical and bio-pharma companies on precision medicine development and deliver genomic biomarkers for clinical trial target selection. Look out for our October 1st episode, the founder of Genomenon will be a guest on DNA Today to explore the genetics of ALS. Learn more about Genomenon at genomenon.com (SPONSORED). If you enjoy DNA Today you will also love Eureka’s Sounds of Science, a podcast from Charles River. Sounds of Science tells the stories of how – how chicken eggs impact vaccine development; how a single parent can change the FDA; how a horseshoe crab saves lives. If you enjoyed our episode (#74) with Huntington Disease patient advocate Antonio Maltese, you should check him out in this episode of Eureka’s Sounds of Science podcast! Listen to Eureka’s Sounds of Science on Apple Podcasts, Spotify, or wherever you download your podcasts. (SPONSORED) Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Learn more about the clinical study and refer a patient to a study center here. (SPONSORED) Stay tuned for the next new episode of DNA Today at the end of September where we’ll be recapping the NSGC Annual Conference! Follow Us On... Instagram: @DNAradio (https://www.instagram.com/dnaradio/) Twitter: @DNApodcast (https://twitter.com/DNApodcast) Facebook: @DNApodcast (https://www.facebook.com/DNApodcast/) Listen On… Spotify (https://spoti.fi/39hVSUD) Apple (https://podcasts.apple.com/us/podcast...) Google (https://podcasts.google.com/feed/aHR0...) DNApodcast.com ******* DNA Today is a podcast and radio show exploring genetics’ impact on health through conversations with leaders in genetics like genetic counselors, researchers, doctors, and patient advocates. The show started in 2012 and features over 150 episodes. DNA Today won the 2020 Best Science and Medicine Podcast Award with nominate four other years. DNA Today is broadcast every Friday at 10:30am ET on WHUS 91.7 FM in Connecticut. New episodes are released on the first and third Friday of the month with some bonus episodes on other Fridays.

This episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes. Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that’s kgi.edu/dnatoday. Hosts: Kira Dineen, MS, LCGC, CG(ASCP)CM is a licensed certified prenatal genetic counselor at Maternal Fetal Care, PC in Connecticut. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 150 episodes interviewing experts in the field. “DNA Today” won the People’s Choice Podcast Awards for the Best 2020 Science and Medicine Podcast. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing genetic experts attended by over 700 genetic counselors around the globe. She writes a monthly blog series, “Explained By A Genetic Counsellor” for Sano Genetics. She received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. Stay tuned for another episode of DNA Today with Dena in October! Featured Panelist: Rachel Mills, MS, CGC, is a certified genetic counselor and Assistant Professor with the University of North Carolina Greensboro Genetic Counseling Program. She serves as the Research & Capstone Coordinator for the Program and supports students completing their Capstone projects. Prior to joining the UNCG faculty, she spent 10 years working as a research coordinator and project manager on studies exploring the utilization of genomics in healthcare. Much of her work focused on implementation of pharmacogenomics (how genes impact our response to medications). Janelle Villiers MS, CGC is the Admissions Director and Assistant Program Director for Sarah Lawrence College Human Genetics’ program. Prior to coming to Sarah Lawrence College, she worked in the clinical setting as a clinical supervisor at Jacobi Medical Center and later worked in a laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She is currently a volunteer site visitor for the Accreditation Council for Genetic Counseling (ACGC). Katie Lee, MS, CGC is a certified genetic counselor (CGC) with over five years of practice in reproductive medicine. She worked for one of the most well-known IVF clinics in the US and for a genetic testing laboratory that offers fertility related genetic testing. Katie Lee currently works with one of the largest sperm banks in the county. She has two YouTube channels, one about miscarriage and fertility and another about the genetic counseling career. FAQs Answered: If you are coming back to school after working for a while, any tips for a smooth transition? And is there a way you would organize your notes/information from class to make it easily accessible for rotations? How can you avoid burnout as a genetic counseling student? How to take care of your mental health in a hectic environment? Which rotations will students experience in the first year of the program? Are these exclusively shadowing opportunities or do students engage in the session? How is the transition from telehealth to in person counseling? How many students attend NSGC? Has this changed with COVID-19 now that the conference is offered through virtual route as well? What are your recommendations for students during the conference? What is the timeline for the thesis project? Can students bring their own ideas to develop? Are thesis projects done in groups or

You did it! DNA Today has been nominated for the Best 2021 Science and Medicine Podcast Award. If you nominated us, check your inbox to see if you were one of the people randomly selected to vote for the show! I was this year and received the email on August 9th. So pause the show now and check to see if you got the email. If you did please go ahead and vote for DNA Today, we need all the votes we can get to defend our title as the best Science and Medicine podcast! This week our host, Kira Dineen, is joined by Kenneth Kovan and Dr. David Berd of BioVaxys, a clinical-stage biopharma company developing antiviral and anticancer vaccine platforms using haptenized viral protein technology. Kenneth Kovan is the Founder, President, and COO of BioVaxys. He has over 30 years of experience in biopharmaceuticals commercial development. Mr. Kovan’s professional background includes several years in technology transfer with Thomas Jefferson University, Strategic Marketing with GlaxoSmithKline, and Global New Product Development with Wyeth-Ayerst Pharmaceuticals. His therapeutic experience includes infectious disease, antivirals, oncology, vaccines, cell/gene therapy, and gene editing. Mr. Kovan has a broad international business background, having launched pharma brands in Latin American and Asia/Pacific markets, and has worked in Europe for several years. David Berd, MD is the Founder and Chief Medical Officer of BioVaxys. He is a medical oncologist with a lifelong record of clinical research in medical oncology and cancer immunotherapy. As National Director for Immunotherapy at Cancer Treatment Centers of America, Dr. Berd investigated the application of the AC vaccine to ovarian cancer. Previously, Dr. Berd was Professor of Medicine at Thomas Jefferson University, where for 20 years he conducted clinical research on melanoma immunotherapy. He also spent nine years as a research physician at Fox Chase Cancer Center. Over the course of his career, Dr. Berd has published more than 85 original papers in numerous medical journals alongside dozens of editorials, reviews and abstracts. He has ten issued patents dealing with cancer vaccines. Have you been vaccinated for COVID-19? Wouldn’t it be handy to have a digitized version of your vaccine record? States in the US are starting to do just this, with California leading the way. However privacy concerns have been raised about the personal information being kept in a central database. Genobank.io offers digitized vaccine records, without these privacy concerns. Genobank.io ultizes blockchain networks to keep track of your vaccine record without exposing your personal data! On This Episode We Discuss: How the immune system fights cancer Haptenized vaccines and how they work Safety of haptenized vaccines COVID-19 vaccines Anticancer and antiviral vaccines Vaccinations for COVID-19 variants To learn more about BioVaxys, visit their website or check them out on Twitter and LinkedIn. Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow students throughout the program. Applications are now being reviewed for the Fall 2021 cohort, and a limited number of spots are still available. Stay tuned for the next new episode of DNA Today on September 3, 2021, where I’ll be joined by Dena Goldberg to share advice for starting graduate school for genetic counseling! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Do you want to influence change in the genomics market? Lucky for you a new position just opened at Agilent where you can have an impact as a Genomic Software Field Applications Scientist. In this west coast remote-based role you will provide technical consultation, training, and education to enable customers to perform data analysis in clinical laboratory environments. You will partner with sales to serve as the scientific/technical specialist to help drive sales and provide support for customers in diverse clinical settings. Learn more about the position here. Join our host, Kira Dineen, next week on Clubhouse. Dena Goldberg (aka Dena DNA) will be interviewing her about how to prepare and what to expect in grad school for genetic counseling. This is

Did you know genetic changes account for an estimated 10-15% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics just released Picture PD Aware, an at-home DNA kit that tests for changes in seven genes associated with Parkinson’s disease. Picture PD Aware is easy to order and understand with good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit over at picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. Joining our host, Kira Dineen, this week Dr. Dayan Goodenowe. He is the Founder, President, and CEO of Prodrome Sciences Inc., and the Author of Breaking Alzheimer's: A 15-Year Crusade to Expose the Cause and Deliver the Cure, a novel about biomarkers of dementia and Alzheimer’s disease, and the science and clinical applications of plasmalogens for the therapeutic treatment of Alzheimer’s disease. Dr. Goodenowe’s primary professional interest is the advancement of precision preventative medicine into mainstream medical practice. The achievement of this goal involves the integration and translation of various scientific and technological fields such as basic biochemistry, biomarker discovery, diagnostic technology, biostatistics, clinical trial design and execution, targeted therapeutic development, epidemiology, and healthcare economics. The prevention and treatment of neurodegenerative diseases is his primary focus. As the founder and CEO of Prodrome Sciences Inc., his primary responsibility is to build a next-generation team of dedicated researchers and other professionals and to work with and continue to grow his team such that Prodrome Sciences Inc. can reach its ultimate goal of saving lives and improving quality of life by implementing our targeted strategy of disease prevention through prodrome detection and treatment. On This Episode We Discuss: Dementia vs Alzhiemer’s disease APOE gene’s role in Alzheimer’s disease Methods to counteract APOE status Correlation between plasmalogens and dementia Plasmalogen’s blood vs brain levels ProdromeNeuro for Alzheimer’s Disease and Parkinson’s Disease How do you keep research articles organized? We have struggled with this for years, but have finally found a solution that is simple and easy. It’s called Paperpile! It radically simplifies the workflow of collecting, managing and writing papers. Paperpile allows you to highlight and annotate papers, manage references, share and collaborate and even cite directly in Google Docs and Microsoft Word. Paperpile’s new mobile apps allows you to sync your library to all your devices so you can read and annotate on your iPad, iPhone, or Android device. Start your free 30 day trial today at paperpile.com with promo code “DNATODAY”. Paperpile costs only $36 per year, but with code “DNATODAY” you save 20%! Enter to win one of 10 copies of Dr. Goodenowe’s book, Breaking Alzheimer’s, in our social media giveaway. Visit our Twitter, Instagram, Facebook, and our host’s LinkedIn to enter. Stay tuned for the next new episode of DNA Today on August 20, 2021 with BioVaxys discussing hapentized vaccines! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Intrigued about genetics? Of course you are, you listen to this podcast! Which is why I think you will be interested in an upcoming webinar on August 11th. In this 3 hour virtual workshop a wide variety of genetic counseling topics will be explored including prenatal genetic counseling (presented by me, Kira Dineen), precision medicine, overview of common genetic conditions, and more! Join us in this collaborative worldwide workshop next week on August 11th! Register here!

It’s time to defend our title as the Best 2020 Science and Medicine Podcast! The Podcast Awards Nominations are open! So we need you listeners to get DNA Today nominated at podcastawards.com. We were against very popular podcasts last year, and because of your support we won. To win again, we need all of you to nominate DNA Today in the Science & Medicine category at podcastawards.com by July 31st. If you share your nomination on social media and tag us, we will repost it and give you a shoutout on show! Thank you so much for all your support, let’s win this together! Joining our host, Kira Dineen, this week is Janice L. Berliner. She is the Director of the Master of Science in Genetic Counseling Program at Bay Path University and the Author of Brooke's Promise, a novel that follows a family through their journey and struggles as their love is pushed to the test while learning to live with their daughter’s disease. Janice has been a genetic counselor for more than 29 years, having earned her MS in Human Genetics/Genetic Counseling from the University of Michigan becoming board-certified in 1993. She has served on the boards of directors of the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counseling (ABGC), and chaired the 2008 NSGC Annual Education Conference. She has also had the opportunity to be part of the hands-on training of a sizable number of genetic counseling graduate students, has served as the Editor-in-Chief of the NSGC quarterly newsletter, on the editorial board of the Journal of Genetic Counseling, and several committees of the NSGC and AGCPD (Association of Genetic Counseling Program Directors). Her second genetics novel is in the works. Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “The DNA Guide for Adoptees” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the aftermath of a surprise DNA discovery. You can hear Brianne share her insight from her book in episode 103 of DNA Today! Learn more at WatershedDNA.com where you can also book your consultation today with Brianne. On This Episode We Discuss: The inspiration behind Brooke’s Promise Fertility genetic counselors Failure to thrive in newborns Pompe disease Interpreting carrier screening results Resources for parents of babies with genetic disorders Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Want to read Brooke’s Promise? Enter our giveaway to win your own copy! Head over to our Twitter, Instagram, and Facebook accounts to enter our giveaway to win one of five free copies. To learn more about Janice and Brooke’s Promise, visit her ​​website, or check her out on Twitter, Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today on August 6th, 2021 with Dr. Dayan Goodenowe about the genetics of dementia! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. The practice of genomic counselling and variant interpretation is advancing at an incredible pace. The University of British Columbia offers an online, flexible graduate certificate for genetic professionals who want to keep up. You will learn to apply the latest methods in clinical bioinformatics, variant interpretation, and genomic counselling. It’s an ideal way to earn CEUs while enhancing your genetic counselling practice. Learn more and register on their website.

COVID-19 variant genotyping is explored with the Director of the UC Davis Genome Center and Healthy Davis Together project.

This marks the 150th episode of DNA Today! Our guests to celebrate this landmark episode of DNA Today are Dr. Euan Ashley, a medical geneticist and cardiologist. And Dr. Stephen Quake, a physics professor, bioengineer and pioneer in microfluidics. A Scotland native, Dr. Euan Ashley graduated with degrees in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, and became one of the most cited articles in clinical medicine that year. The team extended the approach in 2011 to a family of four and now routinely applies genome sequencing to the diagnosis of patients at Stanford hospital where Dr. Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2014, Dr Ashley became co-chair of the steering committee of the NIH Undiagnosed Diseases Network. Stephen Quake is a professor of bioengineering and applied physics at Stanford University and is co-President of the Chan Zuckerberg Biohub. He holds a B.S. in Physics and M.S. in Mathematics from Stanford University and a doctorate in Theoretical Physics from the University of Oxford. Dr. Quake has invented many measurement tools for biology, including new DNA sequencing technologies that have enabled rapid analysis of the human genome and microfluidic automation that allows scientists to efficiently isolate individual cells and decipher their genetic code. Dr. Quake is also well known for inventing new diagnostic tools, including the first non-invasive prenatal test for Down syndrome and other aneuploidies. His test is rapidly replacing risky invasive approaches such as amniocentesis, and millions of women each year now benefit from this approach. He was also the fifth person in the world to have their genome sequences and his genome was the subject of clinical annotation by a large team at Stanford Hospital led by Dr. Ashley. On This Episode We Discuss: The first clinical interpretation of a human genome Genome sequencing technologies The cost of sequencing a genome Understanding the genomic code The future of precision medicine Dr. Ashley’s book, The Genome Odyssey Want to read the Genome Odyssey? Enter to win your own copy! Head over to our Twitter, Instagram, Facebook, and LinkedIn to enter to win a free book! Be sure to follow Dr. Ashley and Dr. Quake on Twitter! How do you keep research articles organized? We have struggled with this for years, but have finally found a solution that is simple and easy. It’s called Paperpile! It radically simplifies the workflow of collecting, managing and writing papers. Paperpile allows you to highlight and annotate papers, manage references, share and collaborate and even cite directly in Google Docs and Microsoft Word. Paperpile’s new mobile apps allows you to sync your library to all your devices so you can read and annotate on your iPad, iPhone, or Android device. Start your free 30 day trial today at paperpile.com with promo code “DNATODAY”. Paperpile costs only $36 per year, but with code “DNATODAY” you save 20%! Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. You can sign up at SLC.edu/DNAtoday to register to level up your resume for applications in the fall. Stay tuned for the next new episode of DNA Today on July 2nd, 2021! We’ll be joined by Dr. Richard Michelmore and Dr. Brad Pollock who will be discussing COVID-19 variants. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected].

Sponsoring this cystic fibrosis series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On the third and final episode of our cystic fibrosis podcast series, our host Kira Dineen is joined by Gunnar Esiason who shares about his experience as a patient with CF. Gunnar is a cystic fibrosis and rare disease patient leader, who is passionate about early stage drug development, patient empowerment and health policy. He is a second-year MBA student at the Tuck School of Business at Dartmouth. He is also working towards a Master of Public Health degree at the Dartmouth Institute for Health Policy and Clinical Practice. His first year course work included a First-Year Project with a health insurance start-up. Prior to Tuck, Gunnar received a BA form Boston College in 2013, worked on an enteral feeding product at a medical nutrition company, and was appointed to the board of directors at the Boomer Esiason Foundation. Gunnar maintains the roles of patient advocate and director of patient outreach at the Boomer Esiason Foundation, named after his NFL quarterback father. He has consulted on clinical trial development, a real world evidence population health study, and a cystic fibrosis-specific mental health and wellness screening tool. On This Episode We Discuss: Gunnar’s diagnosis and journey with CF The anatomy of a CF care team CF awareness and treatments around the world Balancing CF with school, work, and relationships How COVID-19 had affected CF patients Connecting and interacting with people in the CF community You can learn more about Gunnar and his story on his website and check out this article reflecting back on Gunnar and Boomer Esiason’s Sports Illustrated cover. Be sure to follow Gunnar on Twitter, Facebook, LinkedIn, and Instagram. Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy! Stay tuned for the 150th DNA Today on June 18th! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected].

Get a shoutout on the podcast by nominating DNA Today for the Quill Podcast Awards for the “Best Health Podcast”. Share your nomination on social media and tag us. In return, we will thank you personally on the show, you can also comment on our posts on Twitter, Facebook, LinkedIn and Instagram. Nominate in this form! Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To continue our cystic fibrosis podcast series, Dr. Shuling Guo joins our host Kira Dineen, to discuss drug discovery efforts in cystic fibrosis. She is the VP of Antisense Drug Discovery at Ionis Pharmaceuticals – the leader in RNA-targeted drug discovery and development. Shuling is an Ionis veteran of over a dozen years (first and only industry job). Shuling received her Ph.D. in Molecular Cancer Biology from Duke University and had her postdoctoral training at HHMI/UCLA. At Ionis, Dr. Guo oversees drug discovery efforts in hematological, metabolic, ocular, pulmonary and renal disease areas as well as research efforts in noncoding RNA field; managing activities from target identification and target validation to the selection of human development candidate. In addition, she is involved in clinical development of antisense therapies. Her achievements include leading the research efforts for transthyretin (familial amyloid polyneuropathy, completed phase 3 clinical trial & under NDA), TMPRSS6 (beta-thalassemia and hereditary hemochromatosis, phase 1 clinical trial), and ENaC (cystic fibrosis, preclinical development). Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June Sarah Lawrence is hosting this series where you can interact through Zoom with genetic counselors from different specialties for an hour and a half. It kicks off on June 2nd! Register today on Sarah Lawrence’s website to level up your resume for applications in the fall. On This Episode We Discuss: Defining cystic fibrosis (CF) How CFTR protein functions in the lung, difference in lung of CF patients Current drugs on the market for CF Research and development on a drug through Ionis Antisense medicine and how it works in the body Other respiratory diseases that could benefit from this treatment The timeline for FDA-approval and commercial availability of this drug For more information about Ionis’ new cystic fibrosis drug development (IONIS-ENAC-2.5Rx), check out their press release here. You can learn more about Ionis on their website and follow Dr. Shuling Guo on LinkedIn. Don’t forget to enter our cystic fibrosis giveaway of the book, “Breath From Salt”. The author, Bijal P. Trivedi, was on our first episode of the cystic fibrosis podcast series. Head over to our Twitter, Instagram, LinkedIn, and Facebook to enter to win a free copy! Stay tuned for the next new episode of DNA Today on June 4th, 2021! We will be joined by Gunnar Esiason, patient advocate, for the third and final episode of our CF series! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected].

This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development. Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To kick off this series our host Kira Dineen is joined by Bijal P. Trivedi, an award-winning journalist specializing in longform narrative features about biology, medicine, and health. She is the Senior Science Editor at National Geographic. Trivedi has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Bill Gates reviewed Breath from Salt on his blog and recommended it as one of the top five books for 2020. The book was also on the Longlist for the 2021 PEN/E.O. Wilson Literary Science Writing Award. ​ Trivedi’s writing has been featured in The Best American Science and Nature Writing 2012, National Geographic, Scientific American, Wired, Science, Nature, The Economist, Discover, and New Scientist. Her work has taken her from the Mexico-Guatemala border where she covered the use of genetically modified mosquitoes for fighting the dengue virus to the behind the scenes at Massachusetts General Hospital where she watched trauma surgeons test hypothermia to save pigs with life-threatening injuries to Moscow’s Star City where she blasted off with space tourism entrepreneurs on the “Vomit Comet” for astronaut training. She also edited the NIH Director’s Blog and, prior to that, helped launch the National Geographic News Service in partnership with the New York Times Syndicate, which she wrote for and edited. Her undergraduate fascination with biochemistry and molecular biology at Oberlin College compelled her to pursue a master’s degree in molecular/ cell/developmental biology at UCLA. Her love of writing drew her to journalism rather than to a lab bench—and to a second master’s degree in science journalism from New York University. ​ Trivedi has focused on long-form feature stories on complex scientific topics from genetic testing and art authentication to the carbon footprint of our diet and genetically modified mosquitoes. Her New Scientist story “Slimming for Slackers” won the 2006 Wistar Institute Science Journalism Award. “Life on Hold,” also written for New Scientist, won the 2005-2006 Michael E. DeBakey Journalism Award. “The Rembrandt Code,” published in Wired, was tagged “Outstanding story on any subject: Print” by the South Asian Journalists Association. Trivedi co-authored “A Guide To Your Genome” that won the 2009 National Institutes of Health “Gold” Plain Language Award. Most recently, her feature “The Wipeout Gene” was selected for The Best American Science and Nature Writing: 2012. Trivedi taught in New York University’s graduate Science, Health and Environmental Reporting Program from 2007-2012. On This Episode We Discuss: Overview of cystic fibrosis Major cystic fibrosis medical advances and “firsts in medicine” Revolutionary techniques utilized to find the cystic fibrosis gene, CFTR Original gene therapy trials obstacles Two types of CFTR genetic mutations and the effects on the protein Genetic registry to speed up clinical trials Drug research and development to treat cystic fibrosis Venture philanthropy to innovatively fund pharmaceutical research and development Want to read Breath From Salt? Enter our giveaway to win your own copy! Head over to our Twitter, Instagram, and Facebook. Stay tuned for the next installment of DNA Today’s Cystic Fibrosis Podcast Series on May 21st! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also produced with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected].

DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements. Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway… Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th (at DNApodcast.com under the “Resources” tab) in anticipation for DNA Today on April 25th. Join our celebrations on social media using #CTDNADay! DNA Day Podcast Recommendation: Stream Episode 46 of DNA Today that celebrates DNA Day including the history of the day, activities, and careers in genetics. Our guest on this episode is Jo Bhakdi, the founder and CEO of Quantgene. His work in machine learning, sequencing technology, and DNA extraction procedures defines the cutting edge of genomic diagnostics, early disease detection, and precision medicine. Prior to Quantgene, Jo founded i2X, an investment framework that composes low-risk Venture Capital portfolios across large numbers of technology startups. The i2X platform laid important foundations for advanced analytics in both financial and biotechnology applications, such as the Quantgene machine learning platform. Bhakdi holds a Masters in Economics and Psychology from Tubingen University, one of Germany’s leading academic institutions, with a focus on financial theory and statistics. He kicked off his career at WPP and Omnicom, where he held Strategy and Executive Director positions. On This Episode We Discuss: Overview of whole exome sequencing (WES) Technology for WES Whole exome sequencing (WES) vs whole genome sequencing (WGS) vs gene panels When to order WES Disorders diagnosed through WES Turn around time for WES results US insurance coverage and cost of WES Limitations of WES Future of WES, possibly replacing newborn screening or whole genome sequencing Learn more about whole exome sequencing here. You can check out Quantgene through their website. Stay tuned for the next new episode of DNA Today on May 7th, which launches our Cystic Fibrosis Series in honor of May being the awareness month. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Brand new in 2021, episodes are now also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected].