DNA Today: A Genetics Podcast

Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis. Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer. This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants. Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint, explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation. Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine. Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person. You can also buy the book directly on Amazon. Learn more about the Keiger family on Laura’s website. Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram. Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health, Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 94 other episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria. He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria. This Episode We Discuss: The Premise of Legend of Sumeria Inspiration to Start the Graphic Novel Autoimmunity on the Molecular/Genetic Level Conveying Scientific Concepts The Current and Future Science Behind Legend of Sumeria Genetic Privacy Future of Gene Therapy Bioethical Issues Raised in Legend of Sumeria Team Behind the Graphic Novel Be sure to check out the graphic novel on their stunning website. Follow them on Twitter and Instagram. Don’t forget to enter the giveaway on their Instagram by commenting on the latest picture what you found interesting on this episode. The first five to follow and comment will win a complementary copy of Legend of Sumeria! Stay tuned for the next new episode of DNA Today in two weeks. The date to be determined as the normal release date overlaps with the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first and third Fridays of the month. Can’t wait? There are over 90 other episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers. Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader. Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. She serves as a Medical Advisor for Team Telomere. Dr. Suneet Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He is currently an Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal's research and clinical work is focused on the mechanisms and treatment of genetic blood disorders. He leads a multi-center bone marrow transplant clinical trial for dyskeratosis congenita, and his lab is working on new therapeutic approaches for telomere diseases. He also serves as a Medical Advisor for Team Telomere. This Episode We Discuss Katie’s Son’s Diagnostic Journey Dyskeratosis Congenita and Telomere Biology Disorder Prevalence Symptoms Age of Onset Associated Genes Diagnosis Process Treatments Latest Research How Team Telomere Helps Affected Families Becoming a Bone Marrow Donor > BeTheMatch.org Stay tuned for the next new episode of DNA Today on November 2nd, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are over 90 episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&M University and the University of Pittsburgh Center for Pain Research. This Episode We Discuss The Role Genetics Plays in our Experience of Pain Why People have Differences in Pain Responses Genes and Pathways Involved in Pain Environment Factors Affecting Pain Susceptibility Somatic vs. Visceral Pain Behaviors Pain Mechanisms Behind Inflammatory Bowel Disease (IBD) Animals Models Used and Translating Findings to Human Pain Opportunities for Integrating Genetic Analysis into Precision Healthcare Initiatives To learn more about Dr. Erin Young, check out her profile on UCONN’s InCHIP and School of Nursing website. Dive more into her research explore painresearch.uconn.edu and read one of her publications on the topics we discussed, “Genetic Basis of Pain Variability: Recent Advances”. To stay updated with Dr. Young, check out her LinkedIn and Twitter profiles. Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 90 other episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Ellen Matloff is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court. This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health. As genetic testing became more common and also more complex, she has served as the senior author on several publications since 2010, all documenting errors in the interpretation of genetic test results, from all over the US and Canada. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. These tools are scalable, affordable, are available to the consumer immediately, and on their own device, and - importantly - when your genetic test results are reclassified, or medical management recommendations change, you receive a text message or email. Disclaimer, I (host Kira Dineen) also work for Ellen at My Gene Counsel as the Communications Lead. On This Episode We Discuss: Defining direct-to-consumer (DTC) tests Types are available to consumers Difference between medical grade and DTC genetic tests Accuracy of DTC genetic tests What to know before choosing a DTC test Examples of when a DTC test may be more appropriate than a medical grade test and vice versa Why healthcare providers can’t afford to ignore DTC anymore Potential implications of sending a sample to a DTC company Benefits of signing up for My Gene Counsel Check out My Gene Counsel’s website, Twitter, Facebook and LinkedIn pages for more information. Stay tuned for the next new episode of DNA Today on October 19th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC). She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical & Business Development for Geisinger National Precision Health. This Episode We Discuss: Elevator Pitch of Genetic Counseling Ramos’ Career Background Goal of NSGC Ramos’ role as President of NSGC Biggest Challenges in the Genetic Counseling Field 2018 NSGC Professional Status Survey Executive Summary Available to Public 94% of GCs who took part in NSGC’s 2018 professional status survey reported being satisfied with the profession. An average full-time GC earns a salary of $88,000 USD. There are over 4,600 certified GCs in North America, this is an increase of 95% compared to the number just 10 years ago in 2008. There are 43 accredited graduate level training programs in North America. Growth rate of the career between 2016-2026 is 29%, the average for all occupations is 7%. 2017 NSGC Member Benefits, Needs and Satisfaction Survey Annual NSGC Conference, November 2018 in Atlanta, (See you there!) Resources NSGC Provides FindAGeneticCounselor.com AboutGeneticCounselors.com Genetic Counselor and You Webinar Series NSGC Podcast Series: Leading Voices in Genetic Counseling NSGC Digital Ambassadors (aka The Gene Pool) Twitter List with all of us listed For updates from Erica Ramos, follow her on Twitter. And explore some of the resources above that NSGC provides the public. Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 89 other episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to Kira at [email protected].

Dr. Andrew Ury is the CEO and Founder of ActX, one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner. He is also the co-founder of one of the leading practice-based research networks, PPrNet. Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School. This Episode We Discuss: Definition of Electronic Health Records (EHRs) EHRs History, Evolution and Future Dr. Ury’s Perspective as a Founder of the Technology Current EHR Methods and Systems ActX’s Role in Integrating EHRs in Genomic Decision Support Direct-To-Consumer (DTC) Genetic Testing Focused vs Broad Screening FDA Regulation on DTC Genetic Testing Pharmacogenomics and Testing Future Predictions of Integrated Personalized Medicine and Patients’ Role Want to learn more about ActX? Check out their website, Facebook page, and Twitter account. Stay tuned for the next new episode of DNA Today on September 21st. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 88 other episodes to explore in the meantime. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Ira S. Pastor is the CEO of Bioquark, a life sciences company, developing proprietary combinatorial biologics for the regeneration and repair of human organs and tissues. Ira has over 30 years of pharmaceutical experience. He serves as a board member at multiple companies and organizations including RengerAge, the Reanima Project, The World Academy of Medical Science and the World Economic Forum’s Human Enhancement. This Episode We Discuss… Regeneration and repair of human organs and tissues Natural regenerative capability of humans Effect of age Potential role of telomerase Bioquark’s area of focus in regeneration Conditions that could potentially benefit from regeneration research Genetics role in regeneration Research on animals regenerative abilities Growing organs outside the human body and its impact on the organ donor system Somatic reversion and how it differs from other gene therapies Learn more on Bioquark’s website and stay updated by following them on Facebook. Stay tuned for the next new episode of DNA Today on September 7th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful! The Incoming Genetic Counseling Student Panel Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She is the Communications Lead at My Gene Counsel, a digital genetic counseling company. Kira is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. Kira is excited to be in Sarah Lawrence College’s Genetic Counseling Class of 2020. Brynna Nguyenton will be a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi. Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach. Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her recent acceptance into the Master of Genetic Counseling program at The University of British Columbia, she looks forward to completing her degree and working towards introducing the field of genetic counseling to Prince George, and serving the northern communities of British Columbia. On This Episode We Discuss: Overall Application Timeline Cost of our Application Processes Preparation for Applications & Helpful Resources Prerequisites, Extracurricular Activities & Recommended Experiences Finding Genetic Counselors to Shadow Writing the Personal Statements Letters of Recommendation: How Many to Request & Who To Ask Differences Applying as an International Student (Outside US) Deciding Schools: Features to Focus on & Number to Apply to Stay tuned for the next new episode of DNA Today on August 17th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries about the application process for the four of us can be sent to [email protected]. Interested in getting in contact with a current student at a specific school? Shoot us an email and we will work our networks to try and connect you!

Dr. Michael Fossel is the world’s foremost expert on the clinical use of telomerase for age-related diseases. In 1996, he wrote the first book on the telomerase theory of aging, Reversing Human Aging, and has published the sole medical textbook on the topic. Most recently he published The Telomerase Revolution which was named one of the five best science books of the year by the Wall Street Journal. Dr. Fossel earned his PhD and MD from Stanford University, where he taught neurobiology and research methods. He has lectured at the National Institutes of Health and the Smithsonian Institution and has appeared on Good Morning America, CNN, BBC, and NPR among others. He is currently working to bring telomerase to human trials for Alzheimer's disease with his company, Telocyte. On This Episode We Discuss… Telomere theory of aging Age related diseases telomerase potentially prevent/treat Telomerase product effects on cancer prevention Common misconceptions of aging Changing public perspective on the potential of reversing aging Role of family history in longevity Recent aging/telomerase research CRISPR’s use with telomerase Scientifically validation of current anti-aging products Learn more on Michael Fossel’s website. I also recommend his book, The Telomerase Revolution. Stay tuned for the next new episode of DNA Today on August 3rd, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist, matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria. On This Episode We Discuss: Skype A Scientist Effect ways to communicate science Differences between squid species, which ones Sarah works with Squid research goals The symbiosis relationship between the squid and bacteria Squid’s blood, microbiome, and immune system Sarah’s inspiration to pursue a squid research career Advice/resources for students interested research Sarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and really everything cephalopod related. She also has a Tumblr, Youtube page and website for even more information. Stay tuned for the next new episode of DNA Today on July 20th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future. J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller. Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health. On This Episode We Discuss: The genetics thriller novel Biohack and the bioethical issues it raises Potential scientific advances with CRISPR technology The bioethical implications of those advancements Which countries these advances are most likely to occur The bioethical debate change between PGD embryo selection and CRISPR edited embryo, prior to in vitro fertilization Potential restrictions on which genes can be manipulated, disease related vs physical traits Want to delve further into the bioethics of CRISPR? Check out this article from guest Dr. Katie Hasson about designer DNA not being just for designer babies. Another interesting article that complements our discussion in the podcast is Nathaniel Comfort’s “Can We Cure Genetic Diseases Without Slipping Into Eugenics?” Intrigued by our conversation about a child having three biological parents (this is not science fiction) Leah Lowthrop wrote articles about the impact in the fertility industry and the slippery slope this technique could become. Genetics and Society has many more articles to explore! If you are one of the first ten people to sign up for JD’s J.D.’s Best of Indie email list you will receive a free copy of the “Biohack” ebook plus the Hacked Celebrity Files, a full-color PDF outlining Hollywood celebrities and historical figures targeted by the biotech company in the novel. Can’t wait to see if you have won? Buy the book on Amazon for $1 or read it for free through amazon Kindle Unlimited. Be sure to give both J.D. Lasica and Genetics and Society a follow on Twitter. Stay tuned for the next new episode of DNA Today on July 6th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more”. Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing. On This Episode We Discuss: Hereditary component of Alzheimer's Disease Prevalence of Alzheimer’s Disease in the populations and how many people affected Treatment options for people with Alzheimer’s Disease Genome Cure Organization’s efforts to make a difference in the Alzheimer’s Disease Recent research published about Alzheimer's The process of researching new treatments and a potential cure Length of phases Funding required Key players/institutions in the research Current clinical trials Ways the public can get involved Learn more about Genome Cure Organization on their website and Instagram. Stay tuned for the next new episode of DNA Today on June 15th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases. On This Episode We Discuss: Whole genome sequencing (WGS) vs exome sequencing Qualifications for patient to receive WGS Next steps after a “negative WGS” Value of WGS for patients not seeking a diagnosis Hero fund to help families afford testing Predictions of the future use of WGS Genetic counselors role at the clinic Approach to explain testing to patients Next steps for an untreatable/incurable diagnosis Interesting case studies Incidental and secondary findings from WGS Dr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare undiagnosed or misdiagnosed disease, and are considering genetic testing - specifically, whole genome sequencing. Carol Aiken is a certified medical practice administrator with the Professional Association of Healthcare Office Management (PAHCOM). She has over 30 years of medical practice administration experience across multiple physician practice specialties and hospitals. Meagan Cochran is a board-certified genetic counselor with clinical experience in pediatrics, adult medicine and genomics. As one of the genetic counselors at Smith Family Clinic she works with patients and families to understand the role of genomic medicine in healthcare and help them to incorporate this new information into their decision making processes. Follow Smith Family Clinic on Twitter, Facebook, Instagram, and visit their website for more information. Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions. On This Episode We Discuss… Deciding to pursue genetic testing and results Qualifications for having a strong family history of ovarian, breast and/or prostate cancer The risk of passing on a BRCA mutation to a child Males inheriting gene mutations Genetic counseling process and experience Cancer development risk level for people who have BRCA gene mutations Beyond BRCA, additional gene mutations that increases one’s risk for developing cancer Options for preventing and monitoring cancer Recovering from breast cancer Support systems available Getting involved in the patient advocacy community BRCA community terms (previvor, mutantvivor, etc.) Advice to those with family history of cancer and those who have a BRCA mutation Check out Irina’s Instagram, Facebook page, and Facebook group for women in the hereditary breast and ovarian cancer community with mutations (BRCA etc.). She also shares her journey on her website’s blog. Stay tuned for the next new episode of DNA Today on May 18th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage. MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest, is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits. Learn more on MyHeritage's blog. On This Episode We Discuss: -How the project started -Who is eligible and how to apply for this free testing -What is required for the testing -The timeline of the project -The number of people who find their biological relatives through MyHeritage -Information provided in the MyHeritage results -New updates and innovations from My Heritage Don’t forget that April 25th is DNA Day! Check out my episode all about the history of the day and other fun facts. Stay tuned for the next new episode of DNA Today on May 4th, 2018 where I will be interviewing patient advocate Irina Brook about her BRCA2 mutation and hereditary breast cancer. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta. On this episode we discuss… The number of microbes in inside us and how they help us Factors/technology that impacted the start of this new field Differences between studying the human microbiome and genome Techniques/technologies used to study the microbiome Human Microbiome Project Healthy microbiomes Factors that affect microbiomes Variations between people’s microbiomes Microbiome research Role of a bioinformatics analyst in microbiome research Learn more about the microbiome through the University of Utah’s free interactive modules. You can follow Bibaswan on Twitter @bibaswanghoshal and read his blog at worldofbiba.wordpress.com. Check out the books Bibaswan recommends during the episode: Brain Maker by Dr. David Perlmutter and I Contain Multitudes by Dr. Ed Yong. Stay tuned for the next new episode of DNA Today on April 20th, 2018 where I will be interviewing Rafi Mendelsohn about a free DNA test for adoptees and biological families to be reunited. It's offered through April through MyHeritage's DNA Quest. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected]

My guest joining me for this podcast episode is Dr. Pawel Buczkowicz. He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42. He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced. On this episode, we discuss… Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTips How clinicians/researchers use electronic health records Future of electronic health records in healthcare Importance of open-source databases Research on Diffuse Intrinsic Pontine Glioma (DIPG) You can follow Dr. Pawel Buczkowicz (@pbuczkowicz) and Gene42 (@gene42inc) on Twitter. Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram(@DNAradio), Facebook (@DNApodcast) and iTunes. Questions/inquiries can be sent to [email protected].

February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research." This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state. A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases. A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader! Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode. There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself. Jean Kelley also spoke as a patient advocate. Her son Brian has a rare neurological disease called Adrenoleukodystrophy (ALD) for which she started an organization, Brian’s Hope. She shares more during her interview in this episode. Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. It takes 2.5 billion dollars and 12 years to develop a drug, so we need to give tax credits to companies so they have incentive to come to Connecticut for their research, which then helps the state. It’s fantastic that an event like this can bring legislators into the conversation so we can take action to help families with rare diseases. For more information about Rare Disease please visit NORD’s rarediseases.org and check out the other episodes about rare diseases including previous Rare Disease Days.

To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute. There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative. She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC). Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syndromes (SADS) Foundation on their important advocacy work, research, and medical education programs. On this episode, we discuss….. Roles of a cardiovascular genetic counselor Inherited cardiovascular diseases Familial Hypercholesterolemia Long QT Syndrome Red flags for an inherited cardiovascular disorder in a family history Genetic testing including the cascade screening method Preventative treatments for patients with a positive testing Importance of testing children Notifying at-risk relatives of patients To learn more from Amy, follow her on Twitter and read a few of her blog posts below: Am I at Risk for Heart Disease? Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About Curious about the patient perspective in cardiac genetic testing process with a genetic counselor? One of her patients also wrote about his genetic testing experience guided by Amy. Stay updated on new episodes and activities of DNA Today via Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to [email protected].

We are kicking off Rare Disease Month, which leads up to Rare Disease Day (February 28th, 2018). My guest is Eden Lord, Co-Founder and CEO of My City Med. The company is an online health and medical resource site that allows patients to search for a doctor and read reviews, and also connect with non-profit resources and online community support groups. On the show, Eden explains how both patients and physicians can benefit from My City Med’s services and resources. She also provides insight into creating MobiMedQR.com a service that allows patients/caregivers to create a medical profile accessible through QR codes. My City Med and MobiMedQR were inspired by her own family’s needs to navigate the healthcare system. Eden is a mom to kids with rare diseases and during the episode, she shares her role as a caregiver and the journey her family has been through. She is also an advocate pursuing legislation to advance rare disease research. Attend a Rare Disease Day 2018 event! If you are in Connecticut, join me at the two events. The first is Quinnipiac University’s event on their North Haven Campus on 2/27 at 1 pm or an event in Hartford on 2/28 at 8:30 am in the Legislative Office Building. Not in Connecticut? Find a local Rare Disease Day event here.

After having a family history of Huntington's Disease, Antonio Maltese was pre-symptomatically genetically diagnosed with the disease himself. This diagnosis has motivated Antonio to become a fierce patient advocate with big plans to change the future of people with Huntington’s disease. Huntington’s Disease is progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. This neurodegenerative disease is caused by an excess of CAG repeats in the Huntingtin gene (HTT). Unaffected people have this DNA sequence repeated 10 to 35 times. Those that may be affected have 35-39 repeats and those with over 40 repeats will develop Huntington’s Disease. This disease is inherited in an autosomal dominant pattern, meaning if a parent has Huntington’s Disease their child has a 50% chance of inheriting the disease. Antonio shares about his paternal grandmother who had Huntington's Disease and why he decided to pursue genetic testing. The biggest breakthrough in neurodegenerative diseases for 50 years recently occurred, 46 patients had their Huntington genes silenced at the University College London as part of a research study. Antonio I and discuss the impact this could have on Huntington's Disease and other neurodegenerative diseases. Antonio shares the resources he has benefited from including HDBuzz and the blogs where he has collected his research for others: huntingtonsinitiative.blogspot.com and chuffed.org. Don't forget to follow the show on Instagram, Twitter, and Facebook!

Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results. In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting. Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how much research is needed to support a classification and what a patient can do with this information. Variants of Unknown Significance (VUS) can pose a challenge when interpreting this data. If you would like to hear/read more from Jenna, check out her Twitter and LinkedIn page. She also welcomes student contact and can be found on FindAGeneticCounselor.com along with many other genetic counselors for both students and patients.

Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX. This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital, Harvard Medical School, which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program. Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN). If you are interested in finding a genetic counselor as a patient or student, go to findageneticcounselor.com or aboutgeneticcounselor.com to learn more about the field. Stay updated with Megan on Twitter and LinkedIn. And don’t forget to follow my new account on Instagram, @DNAradio.

Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics, a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College, where she also received her M.S. in Human Genetics We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, counseling), and letters of recommendation. She provides an overview of what a typical interview day looks like at Sarah Lawrence and more information on what the Sarah Lawrence genetic counseling program specifically provides students. She also talks about her background as an English major, why she pursued genetic counseling and continues to love the profession. Here’s a complete list of all the accredited genetic counseling graduate programs in North America. Students can also find genetic counselors to job shadow and interview at FindAGeneticCounselor.com. Stay updated on Eleanor’s private practice on Instagram, Twitter and Facebook. And don’t forget to follow my new account on Instagram, @DNAradio.

Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases. Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines. If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram.

“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin. James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases. Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing. Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications. An announcement/reminder that the first Genetic Counseling Awareness day will

Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer. The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd. Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter.

Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”. To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook.

Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.

Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.

Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too!

Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing.

Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte is a Clinical Cytogeneticist from Scotland, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.

Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine.

Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering.

Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care.

Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact.

Patient advocate, Georgia Hurst, shares about the hereditary cancer syndrome that she has, Lynch syndrome. It is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. Georgia shares about her journey with Lynch syndrome from genetic counseling and genetic testing to find her mutation to risk reducing surgeries and how it has altered her life. New research and treatments in the hereditary cancer syndrome community is also Genetic counselors are important in guiding patients through genetic testing. Genetic counselors are valuable resources for helping patient learn about what hereditary cancer syndromes they may have and information for risk reducing surgeries. We highlight the difference between people practicing genetic counseling and certified genetic counselors. Georgia Hurst is a Lynch Syndrome Advocate, with her roles as Founder and Executive Director of the nonprofit, IHaveLynchSyndrome.com, a fantastic resource for people to learn about Lynch syndrome and read personal blog posts by Georgia on her experiences. Georgia has Lynch syndrome which is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. She is a stakeholder in the National Academy of Sciences: Genomics and Population Health Action Collaborative. Her mission is to educate doctors and the public around the globe about Lynch syndrome.

Genetic counselor Brianne Kirkpatrick discuss family health history in honor of November being it’s awareness month, what the public should know about direct-to-consumer tests, how ancestry genetic testing works, and insight on running a private practice. Brianne Kirkpatrick, is a licensed and certified genetic counselor with more than 11 years of experience. She is a member of the National Society of Genetic Counselors, International Society of Genetic Genealogy, and the National Genealogical Society. She has her own private practice, WatershedDNA, where she offers clients her expertise in medical genetics and counseling to provide support and information to those seeking DNA testing for genealogy and health purposes. Brianne received her Bachelor’s in Biology and Religious Studies at Indiana University followed by a Master’s in Genetic Counseling at Northwestern University.

Sharon Begley presented at UCONN about the invention and evolution of the CRISPR-CAS9 technology. After the event she joins me on the show to discuss how CRISPR technology is making huge advances in research with HIV/AIDS, sickle cell disease and more. We discuss how CRISPR compares to other genetic editing technologies and why it has become so universal. Sharon Begley, is a science communicator and is the senior science writer at STAT, the life sciences publication of the Boston Globe. Sharon Begley was previously the senior health and science correspondent at Reuters, the science editor and the science columnist at Newsweek, and a contributing writer at the magazine and its website, The Daily Beast. She is the co-author of the book, The Emotional Life of Your Brain. Another UCONN event is discussed in this episode, Environment, Epigenetics and Cancer: How to Cultivate the Connections. I highlight points from Dr. Mary Beth Terry’s keynote presentation, “Breast Cancer Susceptibility: Rethinking the role of the environment and methods to improve risk assessment” including risk factors for breast cancer and the models used to calculate this risk. Panelist at the event who accompanied Dr. Terry on stage are Dr. Gary Lee Ginsberg, a toxicologist for the CT Dept of Public Health, Ellen Matloff, a certified genetic counselor and President of My Gene Counsel, and Dr. Christina Stevenson, an oncologist at UConn Health. Panel Moderators: Dr. Robert Henning, CPH-NEW Investigator and Dr. Judy Brown, Director Diagnostic Genetic Sciences Program and Health Care Genetics Professional Science Master's Degree Program. I discuss the major topics brought up by the audience along with the panelist responses.

Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel will discuss advances in risk assessment, implications of scientific discoveries, epigenetic biomarkers and technological advances in screening, diagnosis and treatment of cancer as well as provide feedback about the public and patient perspective. Gene Editing: The CRISPR Revolution October 26th, 2016 at 6pm in the Dodd Research Center f UCONN Storrs, CT. Keynote speaker, Sharon Begley, the the senior science writer at STAT, the life sciences publication of the Boston Globe will be discussing the invention and evolution of the CRISPR-CAS9 technology. It seems as if the possibilities for CRISPR are endless: drought–resistant crops, disease resistant livestock, new drugs and a cure for cancer. How does this technology work? What are some of the current explorations of the gene editing technology? What are the limitations and the risks of its use? What ethical conversations need to be had by science, the public, policymakers? Prader-Willi Syndrome: New Epigenetic Findings and Potential Routes to Therap November 4th, 2016 at 2pm in the Henry B.C. Low, M.D. Learning Auditorium at UCONN Health in Farmington, CT. The keynote speaker will be Marc Lalande, Ph.D., Health Net Professor and Chairman from the Department of Genetics and Genome Sciences, UConn Health.

Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers (1-860-679-6199 for CT), her role as a genetic counselor, her expertise of the impact of the Zika Virus on pregnancy, the recommendation of flu shots for pregnant women, the effect of drugs on pregnancy, and October being Pregnancy and Infant Loss Awareness Month. Ginger also offers her insight into becoming a genetic counselor. Ginger Nichols is a certified genetic counselor. She currently works for MotherToBaby CT, which is housed at UCONN Health in the Human Genetics department. Previously she worked in cytogenetic laboratories, taught undergraduate biology/genetics, and counseled adults with Down syndrome and other genetic disorders. She received her bachelor’s in Biology and Sociology at Juniata College followed by a Master’s in Medical Genetics at the University of Cincinnati. If you want to find a genetic counselor in your area, please go to nsgc.org, there you can find a search feature that allows you to locate a genetic counselor near you or genetic counselors that offer phone session. To learn more about the field check out NSGC's new website, aboutgeneticcounselors.com.

September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month. "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and she has made it her mission to fight for CMT. To check out the Hereditary Neuropathy Foundation’s Patient-Centered Charcot-Marie-Tooth Summit you can visit the webpage. Follow Bernadette and the Hereditary Neuropathy Foundation on social media to stay updated on Twitter (@BernsLife13 and @CMTNeuropathy), Facebook (@BernsLife and @Bernadettecmtmovie).

Nevena Hristozova joins me on the show all the way from Brussels! She is in the field of research working with chaperones - stress related proteins, in plants under unfavorable environmental conditions. Nevena maps the molecular interactions of those proteins and their client proteins. We discuss the relationship between chaperons and plants, different types of stress related proteins, chaperons in humans and GMOs. She started her education in Biotechnology in her home country of Bulgaria, then moved to Helsinki for a master's degree in Natural resources, and is now last year PhD student in the Flemish Institute for Biotechnology in Brussels. Nevena's been working on molecular mechanisms of plant resistance and protection against pathogens and environmental conditions. You can check out her blog and follow her on Twitter at @NHristozova.

Dr. Fan explains what plasmids are, highlights cool genes that are inserted into plasmids and how Addgene's plasmid repository works.

Prenatal genetic counselor Brittany Gancarz talks about the field of genetic counseling, busts a few genetic counseling myths and announces a new genetic counseling program in Connecticut! She shares her expertise on genetic testing, what patients can expect during a prenatal genetic counseling appointment, and gives advice to students who are pursuing genetic counseling. Brittany Gancarz graduated from Sarah Lawrence College with a master’s of science degree in Human Genetics. She is a genetic counselor and a clinical instructor in UCONN Health’s Genetics and Developmental Biology department.

Dr. Ellen Elliott discusses her research of lncRNAs in TH2 cells and asthma. One of the technologies she uses to study this is CRISPR, a genetic editing technology. CRISPR has hit the mainstream media fast, it was recently featured on the cover of TIME magazine. Dr. Elliott also gives us a sneak peak at Jackson Laboratory’s new blog series. Dr. Ellen Elliott is a Postdoctoral Associate in Adam Williams’ lab at the gorgeous Jackson Laboratory Genomic Medicine in Farmington, CT. Dr. Elliott is studying the function of long non-coding RNAs in TH2 cells and asthma. Her results will hopefully generate lncRNAs that could be used as therapeutic targets or in diagnostic tests. Dr. Elliott graduated from Indiana University with a BS in Biology and a BS in Neuroscience. After she graduated from the University of Pennsylvania with a PhD in Cell and Molecular Biology.

Sharon Turcotte did research on lncRNAs with Williams Lab at the Jackson Laboratory for Genomic Medicine. She teaches us what a lncRNA is, its function in gene expression, diseases lncRNAs have been associated with, using the CRISPR-Cas system and her advice for students joining the biotech industry. If you want to learn more about RNAs, check out the database RNAcentral.org. You can also read more information about Williams Lab.

National DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. NHGRI began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. Check out NIH's director, Francis Collin's AMA on Reddit, the Harry Potter and the Genetics of Wizarding webinar and the tweetchat #DNADay16 archives. To celebrate on the show, I talk about what DNA is, the history of humans discovering new aspects of DNA, the fun events you can take part in and careers that all relate to DNA. Any questions about DNA Day and it’s events can be direct to [email protected]. You can learn more on their website, https://www.genome.gov/10506367/national-dna-day/.