DNA Today: A Genetics Podcast

We explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today. Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam and discuss the process of exam development, addressing issues, and adapting the exam to be more inclusive and equitable. The conversation covers various aspects of the genetic counseling board exam, including the content, passing point determination, exam administration, and recent changes. It also delves into the cost of the exam, financial assistance, and the impact on genetic counselors. The two ABGC speakers provide insights and transparency to ease anxiety for test takers and offer valuable information for program directors and supervisors. Takeaways Insight into the development and delivery of the genetic counseling board exam. Understanding the multi-pronged process of exam development and the involvement of diverse experts. Adaptation of the exam to address biases and promote inclusivity and equity. The importance of transparency and communication in addressing exam issues and implementing changes. The passing point for the genetic counseling board exam is determined through a rigorous process involving a passing point committee and psychometricians. The cost of the exam is attributed to various factors, including test vendor collaboration, committee meetings, and innovation costs. Financial assistance and reduced exam fees aim to increase equity and access for individuals taking the exam, with a focus on supporting those facing financial hardship. The exam administration process has evolved to provide immediate scoring and diagnostic score reports, enhancing the candidate experience. Insights from the conversation provide valuable information for test takers, program directors, and supervisors, offering transparency and easing anxiety around the exam process. The National Society of Genetic Counselors' (NSGC) Professional Status Survey (PSS) of 2024 reported that 25% of respondents (full time genetic counselors) had their board exam fees covered by their employer. Nineteen percent had their employer cover their board exam review course. Most genetic counselors who sat for exams in 2023 did not receive compensation from their employer upon board certification (83%). Thirteen percent of genetic counselors received a raise in salary upon board certification in 2023. Want to learn more about boards? We have a couple other episodes to listen to, some of which we mentioned in the interview. #126 Adam Buchanan on ABGC Boards Exam - Answering listener submitted questions about the board exam is Adam Buchanan, who was the ABGC president at the time. #138 Genetic Counseling Boards Advice - In this episode our host Kira Dineen (who practices in prenatal) is joined by a cancer and a pediatric genetic counselor for insight from the three major specialties to provide insight #235 Genetic Counseling History: ABGC Formation - Seasoned genetic counselors Ann Walker and Ed Kloza reminisce and share about the formation of the American Board of Genetic Counseling (ABGC). During the episode we also mentioned some other resources…. GC Genius Flashcards - 150 Flashcards: Top 100 Conditions to Know + Expansion Pack (150 conditions) ABGC Official Content Outline ABGC Frequently Asked Questions (FAQs) ABGC Practice Exam ABGC Certified Genetic Counselor (CGC®) Candidate Guide Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 295 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s. What’s special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview. Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology and the Director of the Perini Family Survivors Center and the David B. Perini Jr. Quality of Life Clinic at the Dana-Farber Cancer Institute. Additionally, she is a co-director of the Pediatric Cancer Genetic Risk Program at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dr. Diller's research focuses on the late effects of treatment for childhood cancer and genetic cancer predisposition syndromes in childhood. Newborn screening (NBS) is a vital public health service that detects genetic, metabolic, and congenital disorders early, allowing for timely intervention and better health outcomes. While traditional screening focuses on metabolic and genetic disorders, screening for cancer predisposition is still in its early stages, with ongoing research and pilot programs evaluating its feasibility and benefits. NBS is currently done using a biochemical blood test, but Dr. Diller explains the advantages of using a gene-first approach, which has been documented in a study published in the Journal of the American Medical Association which recruited roughly 30,000 Chinese newborns. The study’s findings state that using genetic testing as a first-tier approach improved detection capability as opposed to traditional methods (Chen et al. 2023). Gene-first sequencing, also known as "phenotype-first" or "candidate-gene" sequencing, is an approach in genetic testing where specific genes that are suspected to be associated with a particular phenotype (observable traits or symptoms) are sequenced first. This method contrasts with more comprehensive sequencing techniques such as whole-exome sequencing (WES) or whole-genome sequencing (WGS), where all protein-coding regions or the entire genome, respectively, are sequenced. Nevertheless, implementing widespread newborn screening for cancer predisposition faces several challenges. Technological limitations need addressing to ensure accurate and reliable results, healthcare infrastructure must adapt, and the costs associated with additional genetic tests and follow-up care can be high. Additionally, the psychological impact on families knowing their child has a predisposition to cancer and what it might mean for them must be considered. Ethical considerations are also crucial in this context. Informed consent, privacy, classification of variants, and the potential for discrimination based on genetic information are key concerns. Dr Diller highlights potential stigma that comes with the “label” of being positive and also how many conditions lack complete penetrance; meaning it is difficult to say when or even if these children will develop cancer. The importance of early detection is underscored by hereditary conditions like retinoblastoma and Li-Fraumeni syndrome (LFS). Retinoblastoma, a rare eye cancer, can be life-threatening if not detected early, but early screening and intervention can significantly improve outcomes. While screening for adult onset cancers like BRCA1/2 in newborns is not recommended, LFS is also associated with various childhood cancers, thus detecting such predispositions early allows for surveillance and preventive measures, potentially saving lives. Following a positive result, parents have the ability to make informed decisions for their children’s health management, whether that requires immediate intervention/therapies, or close monitoring. Dr. Diller emphasizes the importance of the gene-first approach and its role in the trajectory of newborn screening. She highlights the potential of early detection and intervention to significantly reduce cancer morbidity and mortality, and she is encouraged by continued research and support for these promising initiatives. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we explore the rare genetic disorder Smith-Magenis Syndrome (SMS) with our guest, Scotti Taylor. Scotti shares her personal journey and insights about her oldest daughter, Drew, who was diagnosed with SMS. Join us as we learn about the challenges and triumphs faced by individuals with SMS and their families. Scotti Taylor (she/her) is a fine artist based in Oceanside, California, and a mother to four teenagers and young adults. She divides her time between painting and advocacy work. Her art reflects her experiences as a trauma and substance abuse survivor, her roles as a wife and mother, and her responsibilities as a devoted caregiver to her adult daughter with disabilities. Taylor’s work also explores the challenges of navigating physical and social barriers in contemporary society, aiming to evoke empathy and compassion. Her primary artistic themes focus on raising awareness for perimenopausal women and illuminating the rare genetic disorder Smith-Magenis Syndrome, with which her oldest daughter was diagnosed at the age of 20. Discussion Topics: Introduction to Drew: Scotti shares about her daughter Drew, her personality, and what brings her joy. Understanding Smith-Magenis Syndrome (SMS): Explanation of what SMS is and how it affects individuals. Daily challenges faced by Drew and her family due to SMS. Diagnostic Journey: When Drew started showing symptoms and the beginning of their diagnostic odyssey. Early involvement of healthcare providers in Drew’s diagnosis. Physical Characteristics and Diagnosis: Discussion on the subtle facial features of SMS and their presence in Drew. The pivotal moment involving a fellow parent in a Special Needs Moms online group. Scotti’s initial reaction to learning about SMS through online research. Genetic Testing: The process and challenges of getting genetic testing for Drew. The insurance approval process for the genetic test. Explanation of the inheritance patterns of SMS and if Scotti and Drew’s father were tested. Symptoms and Precautions: Managing decreased pain sensitivity and self-injurious behaviors in people with SMS. Extra precautions parents and caregivers need to take to keep those with SMS safe. Impact of sleep disturbances on Drew and the family. Other hallmark features of SMS and their effects on Drew. Family Dynamics: Impact of raising a child with SMS on family dynamics and relationships with Drew’s siblings. Awareness and Advocacy: Importance of spreading awareness about Smith-Magenis Syndrome. Scotti’s art and its role in her advocacy and personal coping. Advice and Resources: Advice for other parents or caregivers of individuals with SMS or similar conditions. Valuable resources and support networks for families affected by SMS. Closing Thoughts: Scotti’s hopes for others to gain an understanding and appreciation of SMS through her experiences and advocacy. Check out Scotti’s art here and her Instagram (@heyscottitaylor). Be sure to also check out PRISMS that Scotti recommends during the interview. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

The real power of gene editing is being able to choose exactly where to edit a genetic disorder, as easily as correcting a tiny typo in a text. With its 25 years of expertise, Cellectis was the first company to translate gene editing tools into potentially life-saving therapies. They invented the allogeneic approach (which is the transfer of cells from one individual to another). Cellectis’ technology, TALEN®, can make very precise edits, with limited to no off-target effects and we are learning more about it in this episode. To do so, we are joined by Dr. Julien Valton, Vice President Gene Therapy at Cellectis. On This Episode We Discuss: Overview of Cellectis: Celebrating 25 years of innovation in gene editing. Overview of Cellectis’ journey and contributions to the field. Understanding TALEN Technology: Explanation of what TALEN stands for and how it works. Comparison of TALEN with other gene editing technologies like CRISPR. Advantages and disadvantages of using TALEN over CRISPR. TALEN's intellectual property status and whether other companies are working on this technology. Chimeric Antigen Receptor (CAR) T-cells: Introduction to CAR T-cells and their role in gene editing with TALEN technology. Recent Research and Innovations: Discussion on the new paper co-authored by Dr. Valton on using TALEN technology to edit hematopoietic stem and progenitor cells. Explanation of the “promoterless intronic gene editing approach” and how it differs from usual methods. Reasons for choosing Mucopolysaccharidosis MPS type I for the study. Insights into the decision to trigger gene expression only after cells have turned into the myeloid lineage. Remarkable findings of “corrected cells” in the brains of mice and the implications for treating metabolic and neurological disorders. Implications and Future Directions: Potential therapeutic applications in the treatment of metabolic and neurological diseases. Discussion on the recent partnership agreement with AstraZeneca. Specific diseases targeted with TALEN in the near future and the goals of the collaboration with AstraZeneca. Conclusion: Final thoughts from Dr. Valton on the future of gene editing and Cellectis’ role in advancing this field. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we are joined by Dan Dry Dock Shockley, a retired Navy veteran and advocate living with a hereditary colon cancer syndrome. Dan’s journey from military service to becoming a passionate advocate for hereditary cancer awareness is both inspiring and educational. Tune in as we delve into his personal experiences, the importance of early detection, and his ongoing mission to educate others. Discussion Topics Dan's Diagnosis and Perspective: Diagnosed at age 51 with no symptoms and no family history of colon cancer. He shares how this diagnosis shaped his perspective on health and life. Genetic Testing Journey: Details about who ordered Dan's genetic testing and the education and counseling he received and the information about his specific genetic variant. Understanding Attenuated FAP: Explanation of attenuated familial adenomatous polyposis (AFAP) and its impact on Dan’s life. Advocacy and Inspiration:What inspired Dan to become an advocate for hereditary colon cancer syndrome and pancreatic cancer awareness. Importance of Early Detection: The crucial role of colonoscopies in early cancer detection and treatment, especially in the context of hereditary cancer syndromes like AFAP. Meeting Dr. Henry Lynch: Dan’s experience meeting Dr. Henry Lynch, a pioneer in cancer genetics and the significance of Dr. Lynch's groundbreaking work. Continuing Dr. Lynch's Legacy: Dan's motivation to continue Dr. Henry T. Lynch's legacy of educating medical students and professionals about AFAP. Navigating with a Positive Attitude: How Dan’s mantra, "Always Forge Ahead with a Purpose," and its significance in guiding him. Myth-busting Hereditary Cancer Syndromes: Common misconceptions about hereditary cancer syndromes and how Dan addresses them. Advice for Others: Dan’s advice for individuals diagnosed with hereditary cancer syndromes or undergoing cancer treatment. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 290 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To discuss ethics in genetics, we are honored to host Dr. Arthur Caplan (he/him), a renowned bioethicist and a pivotal figure in the field of medical ethics. He is currently the Drs. William F and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU School of Medicine in New York City. Topics Covered: Evolution of Bioethics in Genetics: Insights into how the landscape of bioethics within genetics has evolved over the years. CRISPR Technology: Ethical concerns surrounding the use of CRISPR technology for editing the human germ line. Discussion of Dr. Caplan's influential 2015 paper on CRISPR, cited over 200 times. Examination of international treaties and policies governing CRISPR use, and their effectiveness, especially in the context of the controversial case of the Chinese scientist who edited embryos. Ethical Concerns with CRISPR: Issues of accessibility, cost, and informed consent for CRISPR-based therapies. Risks associated with the misuse of CRISPR for bioterrorism or biowarfare, and mitigation strategies through regulation and oversight. AI in Genetics: Potential impact of rapidly advancing AI technology in genetics. Concerns about privacy and confidentiality related to AI applications in genetic data. IVF and Legal Rulings: Discussion of the February 2024 Alabama Supreme Court ruling that embryos created through IVF should be considered children. Implications for IVF clinics in Alabama and potential repercussions if other states follow suit. Impact on individuals using IVF with preimplantation genetic screening (PGS) to prevent genetic conditions. Dr. Caplan was the Sidney D. Caplan Professor of Bioethics at the University of Pennsylvania Perelman School of Medicine in Philadelphia, where he created the Center for Bioethics and the Department of Medical Ethics. Caplan has also taught at the University of Minnesota, where he founded the Center for Biomedical Ethics, the University of Pittsburgh, and Columbia University. He received his PhD from Columbia University. Dr. Caplan is the author or editor of thirty-five books and over 860 papers in peer reviewed journals. His most recent books are Vaccination Ethics and Policy, with Jason Schwartz and, Getting to Good: Research Integrity in Biomedicine with Barbara Redman. He has served on a number of national and international committees including as the chair of the National Cancer Institute Biobanking Ethics Working Group, chair of the Advisory Committee to the United Nations on Human Cloning; chair of the Advisory Committee to the Department of Health and Human Services on Blood Safety and Availability. He has also served on the Presidential Advisory Committee on Gulf War Illnesses, the special advisory committee to the International Olympic Committee on genetics and gene therapy, the Special Advisory Panel to the National Institutes of Mental Health on Human Experimentation on Vulnerable Subjects, the Wellcome Trust Advisory Panel on Research in Humanitarian Crises, and the co-director of the Joint Council of Europe/United Nations Study on Trafficking in Organs and Body Parts. Caplan has served since 2015 as the chairperson of the Compassionate Use Advisory Committee (CompAC), an independent group of internationally recognized medical experts, bioethicists and patient representatives which advises Johnson & Johnson’s Janssen Pharmaceuticals about requests for compassionate use of some of its investigational medicines. Dr. Caplan is a regular commentator on bioethics and health care issues for WebMD/Medscape, WGBH radio in Boston, WOR radio in New York City and KNX-CBS radio, Los Angeles. He appears frequently as a guest and commentator on various other national and international media outlets. Dr. Caplan is the recipient of many awards and honors including the McGovern Medal of the American Medical Writers Association and the Franklin Award from the City of Philadelphia. He was a USA Today 2001 “Person of the Year and was described as one of the ten most influential people in science by Discover magazine in 2008. He has also been honored as one of the fifty most influential people in American health care by Modern Health Care magazine, one of the ten most influential people in America in biotechnology by the National Journal, one of the ten most influential people in the ethics of biotechnology by the editors of Nature Biotechnology, and, one of the 100 most influential people in biotechnology by Scientific American magazine. During the Covid-19 pandemic, he co-directed an advisory group on sports and recreation for the US Conference of Mayors, created a national working group on coronavirus vaccine challenge studies, developed an ethical framework for distributing drugs and vaccines for J&J, helped develop rationing policies for NYU LMC and many other health systems, was a member of the WHO advisory committee on Covid, ethics and experimental drugs/vaccines, and helped set policy for WIRB/WCG for resear

Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, Good Morning America, New York Times, and more. In the first part of our conversation she shared about her experiences prior to being cured including her sickle cell pain crisis and the medical racism she faced. If you haven’t heard this episode yet, we very much encourage you to go back to Episode #288 and listen, this is one of the most raw interviews we have had on the show over the last decade. In the second part of our interview in this episode, Victoria talks about inspiring others to pursue the CRISPR treatment and dives into her own CRISPR experience including the decision making process to go for it, the treatment regime itself, and her quality of life today after being cured. Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life. During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. #197 CRISPR Quality Control with Kiana Aran #201 Sickle Cell Disease with Lifting the Veil #214 2022 Genetics Wrapped with Eric Green #251 Diversifying Genetic Research with 23andMe #266 Genetics Wrapped 2023 You can also binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

It has happened. CRISPR has been successfully used to treat sickle cell, we’d even venture to use the term cure. And today we are talking with the first person in the world who was cured from a genetic condition using CRISPR, Victoria Gray! Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life. Key Takeaways Sickle cell disease causes frequent and severe pain crises, which can be debilitating and unpredictable. Healthcare providers often lack understanding and empathy towards sickle cell patients, leading to mistreatment and stigma. There is a significant disparity in research funding and support for sickle cell compared to other genetic conditions. Mental health care is crucial for individuals with sickle cell disease, but it is often overlooked. Better education and communication from healthcare providers are needed to improve the care and support for sickle cell patients. Healthcare disparities and mistreatment of patients with genetic conditions are ongoing issues that need to be addressed. The impact of Victoria Gray's story extends beyond her own experience and has inspired others to pursue CRISPR treatment. Mental health and faith played a significant role in Victoria's journey. The CRISPR procedure involved bone marrow collection, editing the cells with CRISPR, and reintroducing them into Victoria's body. The treatment has transformed Victoria's life, allowing her to regain independence and participate in activities she couldn't before. During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. #197 CRISPR Quality Control with Kiana Aran #201 Sickle Cell Disease with Lifting the Veil #214 2022 Genetics Wrapped with Eric Green #251 Diversifying Genetic Research with 23andMe #266 Genetics Wrapped 2023 Hear the second half of Victoria’s interview on the next episode (Episode #289) of DNA Today releasing on Friday May 17th. But you don’t have to wait, you can stream the entire conversation (part 1 and 2) in this YouTube video. You can also binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We dive into the journey of a family who unexpectedly discovered a genetic condition and the pivotal role that research at the National Institutes of Health (NIH) played in their understanding and treatment. Joining us are Jess, a patient with a secondary genetic finding, and her genetic counselor, Julie Sapp, from the National Human Genome Research Institute. Secondary genetic findings, often termed as incidental or unexpected results, can have profound implications for individuals and their families. Today, we explore Jess's experience with receiving such a result and the collaborative efforts between patients, genetic counselors, and researchers in navigating this journey. Meet Our Guests: Jess: A patient who received a secondary genetic finding and embarked on a journey of understanding and treatment. Julie Sapp: A genetic counselor at the National Human Genome Research Institute, leading research efforts in the Genomic Services Research Program (GSRP), focusing on individuals with secondary findings. Julie Chevalier Sapp, PhD, ScM, CGC is a genetic counselor at the Center for Precision Health Research at the National Human Genome Research Institute where she studies social and behavioral questions related to the practice of clinical genomics and genetic counseling. Her research interests include how people and systems make use of genomic data, the implementation of genomic screening, and the clinical utility of genomic techniques. Julie received her genetic counseling degree from the Johns Hopkins/NHGRI genetic counseling training program in 2005 and her PhD in Translational Health Science from the George Washington University in 2024. Interview Highlights: Understanding Secondary Findings: Julie provides insights into what constitutes a secondary finding in genetic testing and the importance of comprehending associated health risks and outcomes. Patient Perspective: Jess shares her personal experience of receiving a secondary finding and discusses her journey to the Genomic Service Research Program (GSRP) at the NIH. Role of Genomic Testing in Diagnosis: Julie elaborates on how molecular diagnosis obtained through genomic testing contributed to Jess's clinical diagnosis and subsequent healthcare management. Importance of Interventions: Julie emphasizes the significance of interventions and preventive measures in managing genetic conditions like Familial Hypercholesterolemia (FH). Challenges and Barriers: Both Jess and Julie shed light on the challenges patients face in accessing appropriate care and how genetic counselors can support them in navigating these barriers. Research Insights and Future Directions: Julie discusses the insights gained from Jess's case and the broader implications for research and clinical practice in the realm of genomic medicine. Jess's journey exemplifies the transformative potential of collaborative research efforts in elucidating the complexities of genetic conditions and guiding personalized healthcare interventions. As we continue to advance in genomic research and testing, the experiences shared in this episode underscore the importance of patient-centered care and the invaluable contributions of genetic counselors and researchers alike. Be sure to check out the National Human Genome Research Institute including their Genomic Services Research Program (GSRP). Stay tuned for the next new episode of DNA Today next Friday since new episodes are released every Friday! In the meantime, you can binge over 285 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We have an international perspective in this episode who is a leader in genetics in Qatar. We previously talked to the first certified genetic counselor in Qatar, Shenela Lakhani, in Episode #109. If you haven’t yet we encourage you to check that interview out. In this episode, We learn about the Qatar Genome Program (QGP), which is part of the Qatar Foundation, from the Director himself, Dr. Said Ismail. Dr. Ismail was pivotal to the establishment of the Qatar Genome Program -- a groundbreaking genome sequencing initiative that started in 2015 and is the largest project of its kind in the Middle East. QGP was the first whole-genome sequencing operation in the region to study Qatari and Arab genomes. Dr. Said Ismail expertise and research lie in the fields of molecular biology and genetics, with a focus on cancer genetics, precision medicine, and the screening and characterization of disease-related mutations in the Arab population. Dr. Ismail has work experience across various fields, including research, education, and consultancy. He served as a consultant to several regional and international pharma and biotech companies. He headed the Jordan University Hospital molecular diagnostics reference laboratory, and was a board member of the local advisory board of the International Consortium for the American Society for Clinical Pathology International (ASCPI). He is the first president and co-founder of the International Society on Aptamers and is also an editorial board member of multiple international journals. Dr. Ismail has a special interest in promoting research among young students. He launched one of the largest efforts to enhance the Arabic medical content on the internet, The “Bel-Arabi” or “In-Arabic” initiative: "بالعربي". He is also a board member of the Phi Science Institute aiming to encourage young students to pursue careers in research. Dr. Ismail won the Said Foundation prize for young Arab researchers in the UK, and the Shoman award for Arab researchers in biomedical sciences in 2013. Dr Ismail holds a Ph.D. from the University of Oxford. Key Insights from the Interview: Inspiration behind QGP: Dr. Ismail shares his motivations for spearheading such a groundbreaking initiative, emphasizing the importance of advancing genomic research to enhance healthcare outcomes and address the unique genetic characteristics of the Arab population. Significance of Diversity: We explore the importance of accessing diverse genomic information, particularly concerning the Arab population, in advancing precision medicine. Dr. Ismail highlights the role of QGP in uncovering genetic variations specific to the Qatari population and their implications for disease susceptibility and treatment outcomes. Collaborative Efforts: Dr. Ismail discusses QGP's collaborations with other institutions and researchers to advance genomic research globally. Through partnerships and knowledge exchange, QGP aims to contribute to the broader understanding of genomics and precision medicine. Challenges and Future Prospects: We delve into the challenges encountered in implementing precision medicine approaches and the future prospects of genomic research in Qatar and the wider region. Dr. Ismail provides insights into the evolving landscape of precision healthcare and the potential challenges that lie ahead. Relevant Links: Qatar Genome Program: https://www.qatargenome.org.qa/ News Story on QGP: https://www.eurekalert.org/news-releases/907772 Perception of consanguineous marriage among the qatari population: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436573/ Qatar completes genome sequencing of 30,000 citizens: https://www.gulf-times.com/article/668469/qatar/qatar-completes-genome-sequencing-of-30000-citizens Mappin The Arab Genome: https://www.nature.com/articles/s41588-022-01239-0 GWAS paper: https://www.nature.com/articles/s41467-021-21381-3 PGx paper: https://www.nature.com/articles/s41525-022-00281-5 Familial Cancer paper: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00752-X/abstract ACMG paper: https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24278 Population Structure paper: https://www.nature.com/articles/s41467-021-25287-y Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our websi

In our most streamed episode of 2023, we delved into the fascinating world of Artificial Intelligence (AI) and its impact on genetics with Daniel Uribe, the founder and CEO of GenoBank.io. Now, Daniel returns to the show to provide us with insights into the latest advancements in AI technology and its applications in genetics. In Episode #231, Daniel Uribe and our host Kira Dineen discussed the transformative potential of AI in genetics, focusing on its role in variant curation and diagnostic processes. Since then, AI has continued to evolve rapidly, revolutionizing the field of genetics and offering new possibilities for understanding health and DNA. Danie Uribe, MBA, founder and CEO of GenoBank.io, is at the forefront of integrating AI with genomics to empower individuals and families in understanding their health and DNA. With a deep background in data science, artificial intelligence, and bioinformatics, Danie’s leadership has steered GenoBank.io to develop groundbreaking protocols that utilize BioNFTs for secure genomic data governance. His work champions the cause of data privacy and sovereignty in personal genomics, leveraging AI to demystify complex genetic information for personal health empowerment. An alumnus of IPADE Business School, Danie holds additional certifications in Ethereum Solidity Dapp, eQTL Functional Genetics, and RNA-seq Workshop. A pioneer in the DeSci movement, he is dedicated to making GenoBank.io a beacon for individuals seeking to navigate their health journey with confidence, supported by accessible and secure genomic insights. Interview Highlights: Advancements in AI Technology: Daniel provides an overview of the remarkable progress AI has made since our last conversation on Episode #231 in early 2023, highlighting its growing influence and expanding applications in genetics. From variant curation to diagnostic workflows, AI is transforming the way we understand and interpret genomic data. Current Uses of AI in Genetics: Daniel explores the diverse ways in which AI is already being utilized in genetics, from prioritizing workflow for variant curation to filtering through large volumes of genomic data. He shares real-world examples of AI-driven solutions that have enhanced efficiency and accuracy in genomic analysis. Impact on Genetic Jobs: We discuss the potential implications of AI on genetic jobs and whether AI will replace certain roles in the field. Daniel offers insights into how AI can augment the capabilities of genetic counselors and other experts, emphasizing the importance of embracing AI as a valuable tool rather than a replacement. Enhancing Variant Curation with AI: Daniel explains the role of AI in prioritizing variants for further investigation in the curation workflow and how it accelerates the diagnostic odyssey, particularly for individuals with rare diseases. He addresses concerns about costs and disparities in variant curation and discusses the potential of AI to close these gaps. Addressing Challenges and Security Concerns: We delve into the challenges genetic counselors face in adopting AI tools and discuss strategies for overcoming these obstacles. Daniel also highlights the importance of data security and the need for robust measures to protect individuals' data while utilizing AI tools in genetic analysis. Regulatory Landscape and Future Outlook: Daniel provides updates on regulations and policies affecting the use of AI in genetics, particularly in the US. He shares insights into the integration of AI as a co-pilot in the profession of genetic counseling and discusses the future trajectory of AI-driven advancements in genetics. As we navigate the dynamic landscape of AI and genetics, Daniel's expertise offers invaluable insights into the transformative potential of this technology. From improving diagnostic accuracy to addressing disparities in variant curation, AI holds immense promise for revolutionizing the field of genetics and enhancing patient care. Be sure to check out GenoBank.io. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 285 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Trigger warning: In this episode sensitive topics are discussed including, but not limited to, miscarriage, sexual abuse, manslaughter, and child abuse. On February 16th, 2024 the Alabama Supreme Court brought fertility care in that state to a screeching halt—and started a national conversation—by declaring that frozen embryos were people in the eyes of the law. This is the first line of Laura Hercher’s Scientific American article, “How Arguments that Embryos Are People Pose a Threat to IVF''. And we are lucky enough to have Laura joining us to discuss this! For those that somehow don’t know Laura Hercher, you haven’t listened to enough episodes of DNA Today she has become our correspondent when major legislation happens that affects reproductive medicine, check those episodes out below. #157 NSGC 2021 Recap (Texas Abortion Ban) #191 Overturning Roe v. Wade with Laura Hercher Laura Hercher (she/her) is a genetic counselor and the Director of Student Research at Sarah Lawrence College’s Joan H. Marks Graduate Program in Human Genetics, where her research focuses on ethical, legal and social issues in genomic medicine. Her work as a commentator and journalist has been published in a wide variety of media outlets, including Scientific American, the MIT Technology Review, the Nation Magazine and the New York Times. At present, she is working on a book examining the societal implications of reproductive genomic medicine in the United States, tentatively entitled “The Ghettoization of Genetic Disease.” On This Episode We Discuss: Overview of the Alabama Supreme Court case and its ruling on the legal status of frozen embryos Definition of personhood and its implications for IVF and Republican politicians Implications of the ruling for couples seeking fertility treatment involving frozen embryos Impact of the ruling on the use of IVF for preventing hereditary conditions Considerations regarding legal liabilities and responsibilities for abandoned embryos Historical exemptions of IVF from abortion restrictions and its future under personhood laws Tensions between embryo recognition as individuals and practical IVF procedures Potential changes in availability and affordability of IVF due to legal implications Precedents from other countries and legal systems regarding IVF and embryo personhood Role of the U.S. Supreme Court in adjudicating similar reproductive rights cases Teaser for Laura Hercher’s upcoming book on the societal implications of reproductive genomic medicine If you listened until the end of the episode, you heard Laura Hercher’s breaking news. No spoilers, but now you have to listen to our episode about how accurate the genetics in the 1997 movie Gattaca is today, that’s Episode #110. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We delve into the intricate intersection of genetics and cardiac health, exploring the profound impact of genetic insights on patient care and treatment decisions. Joining us are two distinguished guests from Blueprint Genetics, Julie Hathaway and Susan Christian, both seasoned genetic counselors specializing in cardiovascular health. Their expertise promises to illuminate the complexities of genetic testing in cardiac conditions, offering valuable insights into familial risk assessment, intervention strategies, and emerging trends in personalized medicine. Susan Christian is a certified genetic counsellor with Genetics & Genomics with Alberta Precision Labs and is cross appointed to the Medical Genetics Clinics with Alberta Health Services. She completed a MSc in Genetic Counselling from the University of British Columbia in 1999 and a PhD in Medical Genetics from the University of Alberta in 2019. Her research focus is on genetic counselling and inherited heart disease. Julie Hathaway is an American and Canadian Board certified genetic counselor. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content. Exploring Genetic Cardiac Conditions: - Deciphering the two main types of cardiac conditions: structural differences and rhythm abnormalities, providing clarity on their distinctions and clinical implications. Identifying Familial Risk: - Key clues in family histories that may indicate inherited cardiac conditions, emphasizing the importance of early detection and intervention. Challenges in Testing Deceased Patients: - The challenges laboratories face in testing deceased patients, highlighting the complexities of obtaining samples and interpreting limited phenotypic data. Family Testing and Intervention: - The significance of testing family members after identifying a familial variant, discussing intervention strategies and clinical trial eligibility. Patient Impact of Genetic Test Results: - How genetic test results impact patient management, including decisions regarding clinical trial eligibility and implantable cardioverter-defibrillator (ICD) implantation. Genetic Testing Panels and Exome Sequencing: - The selection of genetic testing panels, discussing the considerations for panel size and the circumstances warranting exome sequencing. Addressing Emotional and Psychological Aspects: - The vital role of genetic counselors in supporting patients and families through the emotional and psychological aspects of genetic testing for cardiac conditions. Ethical Considerations and Future Trends: - The ethical considerations of genetic testing in pediatric cases and explores the future of genetic testing and personalized medicine in cardiology. Be sure to check out Blueprint Genetics’ cardiac genetic testing options including over 20 panels. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Ornithine transcarbamylase deficiency (OTC-D) is the most common urea cycle disorder (UCD) and is inherited in an X-linked manner. Females with OTC-D are affected to varying degrees. Some female patients will develop chronic and nonspecific symptoms, such as headaches, and all women with OTC-D are at risk of experiencing hyperammonemic crises. Additionally, recent studies suggest these women can experience neurocognitive changes even though they may appear to be “asymptomatic” or have mild symptoms. As our understanding of the disease has evolved, so too have the ways in which we refer to these women and approach their care. In this episode, we’re delving into the evolution of caring for heterozygous females with OTC-D, including the unique challenges to diagnosis and management of these patients with variable and nonspecific symptoms. Joining us are two esteemed guests well-versed in the unique needs of females with OTC-D. Annette Feigenbaum, MBChB, FRCPC, DABMG (Rady Children’s Hospital and University of California San Diego), is a metabolic geneticist with over 30 years of experience in the field. She recently retired from her clinic role at Rady Children’s Hospital, where she served as an associate physician for the past 12 years. She and her team recently published a case report on the prenatal and postpartum management of a female with OTC-D. She has also published an overview of the challenges of managing female heterozygotes with OTC-D. Joshua Baker, DO (Ann & Robert H. Lurie Children’s Hospital of Chicago), is a metabolic geneticist and the director of the Inborn Errors of Metabolism Program in the Division of Genetics, Genomics, and Metabolism. He and his team recently published a case report on a family with variable manifestations of OTC-D. On This Episode, We Discuss: How our understanding and approaches to managing heterozygous females with OTC-D have changed over time Management challenges unique to females with OTC-D and best practices for encouraging continued engagement in their care Opportunities to support the care of females with OTC-D Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 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; this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach intern is Sanya Tinaikar. Our social media intern is Kajal Patel, and our logo graphic designer is Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube, and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. This episode was originally recorded for another podcast Kira Dineen produces, It Happened To Me, and which is hosted by Cathy Gildenhorn and Beth Glassman. Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango’s strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango’s lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women’s Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease. A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000. During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. Check out his wife, Myra Sack’s organization, Emotion, which is for grieving individuals to find community and cope with loss. In the next episode of It Happened To Me Myra Sack will come on the show to share about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

National Down Syndrome Awareness day is just around the corner on March 21st, since it’s the 21st day of the third month (a reference to the three copies of chromosome 21). To learn more about the condition and community we are joined by patient advocate, parent and Nurse, Jenness Stock. Jenness Stock (she/her) is a Nationally Certified School Nurse with a Masters Degree in Nursing Education. She is also a mother of five, and her youngest child had a prenatal diagnosis of Down syndrome. She is an active parent in the Down syndrome advocacy community, notably as a member of the Down Syndrome Diagnosis Network Medical Outreach Team. This team provides medical professionals with the tools and resources needed to discuss Down syndrome in a way that is supportive and educational at every stage. They share the most up-to-date evidence available to guide practitioners in delivering and discussing a diagnosis or screen result. Exploring Down Syndrome Advocacy: Jenness shares her journey into the Down syndrome advocacy community and highlights the rewarding moments she has experienced as a parent and advocate. Challenges and Support: We delve into the challenges faced by individuals with Down syndrome and their families, discussing ways in which communities can offer support and foster inclusivity. Navigating Healthcare Conversations: Jenness reflects on her own experiences with healthcare providers during the prenatal diagnosis of Down syndrome, offering insights into effective communication and support. Educating Medical Professionals: As a trained nurse, Jenness discusses the intersection of her nursing background with her advocacy work, emphasizing the importance of education and awareness among medical professionals. Down Syndrome Diagnosis Network: Jenness provides valuable insights into the work of the Down Syndrome Diagnosis Network Medical Outreach Team, highlighting key resources and tools provided to medical professionals. Empowering Parents: Jenness offers advice and guidance to parents navigating a prenatal diagnosis of Down syndrome, drawing from her own experiences and journey. Creating Inclusive Environments: We explore the role of schools in creating inclusive environments for students with Down syndrome and other disabilities, discussing strategies for fostering acceptance and support. Celebrating Down Syndrome Awareness Day: As we approach National Down Syndrome Awareness Day, Jenness shares a heartfelt message about the importance of celebrating and supporting individuals with Down syndrome. As we conclude our conversation with Jenness Stock, we are reminded of the power of advocacy, compassion, and community in embracing and celebrating individuals with Down syndrome. Join us in honoring their unique abilities, contributions, and the joy they bring to our lives. During the interview Jenness provided resources, check them out below… Down Syndrome Diagnosis Network's (DSDN) Resource for Medical Professionals Form to request materials from DSDN for providers and patients GiGi’s PlayHouse We recommend you also check out Glee Actress Lauren Potter on Episode #176. She shares her experience of having Down Syndrome including her advocacy and acting career. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are excited to welcome on the show Lori Bassett, a board-certified genetic counselor and the Director of Communications at the Greenwood Genetic Center (GGC). As GGC commemorates its 50th anniversary this year, Lori joins us to shed light on the center's remarkable journey, achievements, and contributions to the field of genetics. Lori Bassett brings a wealth of knowledge and experience to our conversation as she shares insights into the Greenwood Genetic Center's mission, structure, and impact. Since 2010, Lori has played a pivotal role in GGC's communication efforts, ensuring that the center's groundbreaking work reaches a wide audience. Exploring the Greenwood Genetic Center: - Lori provides an overview of the Greenwood Genetic Center, highlighting its patient-centric approach to clinical genetic services, diagnostic testing, research initiatives, and education programs. Situated in Greenwood, SC, GGC serves as a beacon of hope and innovation in the field of genetics. Founding and Motivation: - Delving into the center's origins, Lori shares the motivation behind the establishment of GGC and sheds light on why it found its home in Greenwood, SC. Founded in 1974 by Dr. Roger Stevenson and Dr. Hal Taylor, GGC's journey began with a vision to provide comprehensive genetic services to individuals and families. Unique Collaborative Divisions: - Lori discusses GGC's unique structure, comprising four collaborative divisions: clinics, diagnostic labs, research, and education. Through partnerships, funding initiatives, and collaborations with institutions like MUSC, GGC continues to push the boundaries of genetic research and clinical care. Milestones and Achievements: - Reflecting on the center's 50-year legacy, Lori highlights key achievements and contributions, including groundbreaking discoveries in genetic mechanisms, advancements in diagnostic testing, and pioneering initiatives such as the Birth Defects Prevention Program and the Carroll A. Campbell Alzheimer's Initiative. Current Initiatives and Future Outlook: - Lori shares insights into GGC's current initiatives, including the Precision Medicine Initiative and the Carroll A. Campbell Alzheimer's Initiative - MitoSense, offering a glimpse into the center's ongoing commitment to innovation and excellence. Engaging with GGC: - For those eager to learn more about GGC and its groundbreaking work, Lori invites listeners to explore past podcast episodes and visit GGC's booth (#1201) at the upcoming ACMG conference. Don't miss this opportunity to connect with the GGC team and learn about the latest advancements in genetics. In the episode we mentioned EpiSign, you can check out the newest version 5 that includes over 90 signatures. In Episode #145 of DNA Today we talked about this genome-wide methylation analysis. During the episode we also chatted about mitochondrial disorders, check out Episodes #170 and #196 to learn more. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Welcome to the first episode of DNA Dialogues, the official podcast of the Journal of Genetic Counseling. DNA Today’s Host/Producer Kira Dineen is on the production team of DNA Dialogues and is excited to share the first episode of the podcast! Rare diseases can impact so many people - from patients themselves, to families, to broader communities. To celebrate rare disease day, we are going to dive into two recent articles from the Journal of Genetic Counseling that showcase the rare disease experience. The following interviews provide insight into the wider impact of rare disease, with a special focus on families. Segment 1: “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings” Dr. Catherine Larson joins us in the first segment to talk about her recent article titled, “Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings”. Dr. Catherine Larson is a Child and Adolescent Psychiatrist and a sibling to Elizabeth, who has a Chromosome 18 deletion. After earning her undergraduate degree, she worked as a research assistant at the Chromosome 18 Research Center, where she began her research on Sibling relationships. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. As a practicing psychiatrist, she opened her private practice in Austin, Texas, and she also returned to join the research team at the Chromosome 18 Research Center. Dr. Catherine Larson is double Board Certified by the American Board of Psychiatry and Neurology in General Psychiatry and Child and Adolescent Psychiatry. Dr. Larson earned her Medical Degree from the University of Texas School of Medicine at San Antonio. She then went on to complete a General Psychiatry Residency Program, followed by a Fellowship in Child and Adolescent Psychiatry at The University of Texas at Austin, Dell Medical School. In addition to her private practice, she is currently an Adjunct Assistant Professor at The University of Texas Health School of Medicine at San Antonio. Segment 2 “Families' experiences accessing care after genomic sequencing in the pediatric cancer context: ‘It's just been a big juggle’” Authors Sarah Scollon and Blake Vuocolo talk about their recent Journal of Genetic Counseling paper in the pediatric cancer space. Sarah Scollon is an Assistant Professor in the Department of Pediatrics at Baylor College of Medicine and certified genetic counselor for the Texas Children’s Hospital Cancer Genetics and Genomics Program. She has served in dual clinical and research roles across the course of her career. Her research interests engage the overarching themes of (1) adaptation of genetic counseling practice to implement evolving technologies (2) optimization of patient-provider communication and education and (3) equity and inclusion for diverse populations in genetic medicine and research. Ms. Scollon has had a longstanding dedication to the care of children and families affected by cancer. She is an advocate for including genetic counseling into pediatric cancer care. She works to educate others on the role genetics and genomics can play in the care of patients with pediatric cancer and their families both from a clinical and psychosocial standpoint. Blake Vuocolo is a certified research genetic counselor in the Department of Molecular and Human Genetics at Baylor College of Medicine. She graduated from the Baylor College of Medicine Genetic Counseling Program in 2022, and her thesis work focused on access to follow-up hereditary cancer care in underserved pediatric populations through the KidsCanSeq study. Currently, her work focuses on exome and genome sequencing of medically underserved populations with undiagnosed diseases throughout Texas. Ms. Vuocolo is passionate about finding sustainable ways to improve genomic health equity worldwide. Her interests include exploring access barriers to receiving genomic care in different healthcare contexts and improving genetics education for non-genetics healthcare providers in under-resourced regions of the country and beyond. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into [email protected]. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’

To continue our rare disease month celebrations (leading up to rare disease day on Feb 29th, the rarest day in the year), in this episode we chat with Sarita Edwards who’s son Elijah has Trisomy 18. Sarita Edwards (she/her) is the CEO & President at the E.WE Foundation, a global healthcare advocacy organization for families living with Trisomy 18 (Edwards Syndrome) and other rare diseases. Sarita's son Elijah was diagnosed in utero with Full Trisomy 18 which began her efforts of advocacy and public policy. Sarita is a 2021 world's top patient expert and social health ambassador. She is an award winning advocate, global speaker, and host of the Being Rare Podcast. Sarita is a legislative advocate providing insight on policy initiatives within her home state and across the country. Sarita has a Bachelor of Science in Health Science, a Masters in Healthcare Administration, and is a certified Mental Health Instructor. Sarita lives in North Alabama with her husband Kareem and their five children. Exploring Trisomy 18: - Sarita shares her personal journey and experiences upon learning that her son, Elijah, may have Trisomy 18, offering insights into her pregnancy and interactions with healthcare providers. Challenging Misconceptions: - Dispelling common misconceptions about Trisomy 18, Sarita sheds light on the realities and complexities of living with this condition. Supporting Families: - We delve into the challenges families face when caring for a child with Trisomy 18, exploring the vital role of organizations like the E.WE Foundation in providing support and resources. Empowering Advocacy: - Sarita discusses her introduction to the Trisomy 18 community, the inspiration behind founding the E.WE Foundation, and its evolution in supporting families worldwide. Mission of the E.WE Foundation: - Gain insights into the mission and goals of the E.WE Foundation, its commitment to supporting families living with Trisomy 18 and rare diseases, and the importance of raising awareness. Advice and Guidance: - Sarita offers heartfelt advice to parents navigating a diagnosis of Trisomy 18, drawing from her own experiences and journey with her son, Elijah. Collaboration and Impact: - Learn how the E.WE Foundation collaborates with healthcare professionals and organizations to enhance care and resources for individuals with Trisomy 18. Future Hopes and Aspirations: - Sarita shares her hopes for the future, envisioning advancements in awareness, research, and care for individuals with Trisomy 18. We recommend listening to Episode #228 of DNA Today, highlighting the importance of continued education and awareness around Trisomy 18 and other rare diseases.Be sure to check out E.WE Foundation’s website for more info and resources. Keep your eye out for Kira’s guest appearance on Sarita Edwards’ podcast, Being Rare. The next episode of DNA Today will be an exciting announcement about a collaboration for a brand new podcast in the genetics research space, stay tuned for March 1st… New episodes are released every Friday. In the meantime, you can binge over 275 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode, we're diving deep into the realm of targeted DNA methylation sequencing, a cutting-edge technology with vast implications for clinical diagnostics and research. Joining us are Chad Pollard, CEO and Co-Founder of Wasatch BioLabs, and Dr. Jonathon Hill, an expert in genomic and bioinformatic methods. Together, they shed light on the importance of DNA methylation, the intricacies of targeted sequencing, and the future of epigenetic analysis. Chad Pollard, BS CEO | Co-Founder Chad, a PhD candidate of Cell Biology and Physiology at BYU, graduated with his bachelor's degree in Genetics, Genomics, and Biotechnology and is currently furthering his pioneering work on pre-symptomatic diagnostics for neurodegenerative disease. He focuses on implementing groundbreaking technology through Wasatch BioLabs to impact clinical care. Dr. Jonathon Hill, PhD VP of Science and Technology | Board Member | Co-Founder Jonathon, an Associate Professor of Cell Biology and Physiology at BYU, develops innovative genomic and bioinformatic methods for gene expression analysis and variant detection. He studies the molecular genetics of congenital heart defects in his lab. He is a Fulbright Scholar and a BYU Early-Career Teaching Award recipient, having received his MS in Molecular Biology from the University of Colorado Health Science Center and a PhD in Genetics and Developmental Biology from Columbia University. Understanding DNA Methylation Sequencing: - An overview of DNA methylation and its significance in regulating gene expression and cellular function. - Insights into how targeted DNA methylation sequencing works and the conditions that prompt its use in clinical and research settings. - Chad discusses Wasatch BioLabs' motivation for incorporating targeted methylation assays into its sequencing services and how this capability addresses unmet needs in various settings. Advantages of Oxford Nanopore Technologies' PromethION Platform: - An exploration of the advantages of using the PromethION platform for targeted methylation analysis, including accuracy, coverage, sensitivity, scalability, and cost-effectiveness. - Dr. Hill delves into the development process behind targeted sequencing technology for methylation analysis and considerations for panel design to ensure relevance and specificity. - Measures taken by Wasatch BioLabs to ensure the accuracy and reliability of methylation data obtained through its targeted sequencing service, including quality control protocols. - Challenges encountered in implementing targeted methylation assays on the PromethION platform and how Wasatch BioLabs has addressed these challenges. Clinical Applications and Future Implications: - Potential clinical applications of targeted methylation analysis for early diagnostics and personalized medicine, along with insights into disease mechanisms and therapeutic strategies. - Walkthrough of the sample submission process and receiving results for the Targeted DNA Methylation Sequencing service, along with customization options available to researchers. - Ongoing collaborations and partnerships involving Wasatch BioLabs to explore the utility of targeted methylation assays for various diseases and conditions. - Chad and Dr. Hill share their excitement about the future of targeted methylation analysis and its potential contributions to advancements in research and healthcare. Learn more on Wasatch BioLab’s website. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we're delving into the intricate landscape of ALS (Amyotrophic Lateral Sclerosis), commonly known as Lou Gehrig's disease. Returning to the show is Dr. Patrick Short, CEO and Co-Founder of the healthtech platform Sano Genetics. With his expertise in researching large-scale genome sequencing and rare disorders, Dr. Short provides invaluable insights into the genetics of ALS. Dr. Patrick Short is a Cambridge-trained PhD geneticist with experience researching large-scale genome sequencing and rare disorders. He is CEO and co-founder of healthtech platform Sano Genetics, which is accelerating the world’s transition to precision medicine. Sano simplifies studies, working with pharmaceutical companies and biotechs to find, screen, and engage participants faster and more cost effectively; with researchers to increase efficiency and impact; and with patient advocacy groups to drive research with and for their communities. Understanding the Role of Genetics in ALS - Dr. Short sheds light on the role genetics plays in ALS and discusses potential non-genetic factors that contribute to the disease. Genetic Factors and Risk for ALS - Exploration of genes associated with a higher risk for ALS and whether they contribute to diagnosis or merely increase susceptibility. Evolution of Understanding in ALS Genetics - Dr. Short discusses how our understanding of ALS genetics has evolved in recent years and offers insights into future advancements. Comparing ALS with Other Neurodegenerative Disorders - Insights into how the genetic landscape of ALS differs from conditions like Alzheimer's and Parkinson's disease. The "Light The Way" Program by Sano Genetics - An introduction to Sano Genetics' free program, "Light The Way," designed for families affected by ALS. - Eligibility criteria and the enrollment process for families interested in participating in the "Light The Way" program. - Key objectives and expected outcomes of the "Light The Way" program, focusing on uncovering genetic risks for ALS. Challenges in Large-Scale Genetic Studies - Dr. Short discusses the complexities and challenges involved in conducting large-scale genetic studies focused on ALS. Contributions to ALS Research and Therapy Development - Envisioning how data collected can contribute to our understanding of ALS and the development of potential therapies. Importance of International Collaboration - Insights into the crucial role of international collaboration and data sharing in advancing genetic research and therapy development for ALS. As we navigate the intricate genetics of ALS, Dr. Patrick Short provides a wealth of knowledge and perspective, offering hope for advancements in diagnosis, treatment, and ultimately, a cure for this devastating disease. Join us in this enlightening conversation as we strive to unravel the mysteries of ALS and pave the way for a brighter future. If you enjoyed hearing from Dr. Short, listen to Episode #106 of DNA Today where he shared about the genetics of autism. Dr. Short also hosts Sano Genetics’ show, The Genetics Podcast; you can hear our host Kira Dineen on Episode #15. She will also be a panelist on Sano Genetics’ upcoming webinar exploring newborn screening, stay tuned! A few years ago, Kira was the writer of a Sano Genetics blog series, “Explained By A Genetic Counselor”. If you want to hear from a patient perspective we highly recommend Episode #16 of It Happened To Me with Brooke Eby. It’s the most popular episode of the podcast by far (nearly 10,000 views on YouTube)! Kira Dineen is also the Executive Producer of the show. Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 275 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Happy Rare Disease Month! Did you know why February was chosen? It's because it harbors the rarest day of the year, February 29th, which coincides with Rare Disease Day. To kick off this special month, we're thrilled to share a poignant episode of the "It Happened To Me Podcast," where rare diseases take center stage. Our host, Kira Dineen, is the Executive Producer of the "It Happened To Me" podcast and had the privilege of co-hosting this episode, delving into the complexities of Wolfram Syndrome. Our guest is a parent of a child with Wolfram Syndrome, while one of the hosts of the show (Cathy) also grapples with this condition. This unique dynamic led to a deeply insightful conversation, filled with personal experiences and valuable insights. We hope you'll enjoy and learn from this discussion as much as we did. Wolfram Syndrome is a rare recessive genetic condition with profound implications. Our guest on this episode is Stephanie Snow Gebel, a parent and advocate who has dedicated herself to raising awareness and advancing research through the Snow Foundation for Wolfram Syndrome. Stephanie shares her journey as a parent of a child diagnosed with Wolfram Syndrome, offering insights into diagnosis, management, advocacy, and hope. Understanding Wolfram Syndrome: Stephanie describes Wolfram Syndrome, outlining its complex array of symptoms, including diabetes, optic nerve atrophy, vision loss, deafness, loss of taste and smell, and urinary and bladder dysfunction. The Wolfram Journey: Stephanie recounts her journey as a parent of a child with Wolfram Syndrome, from the initial noticing of symptoms to diagnosis and beyond. Diagnosis and Symptoms: Stephanie shares about her daughter’s symptoms and experiences with Wolfram Syndrome, shedding light on the challenges faced. The Role of the Snow Foundation: Stephanie discusses the creation and mission of the Snow Foundation, highlighting its impact in filling a void and driving research efforts forward. Treatment and Management: Insights into managing Wolfram Syndrome, including treatment of individual symptoms such as diabetes and vision loss. Current Trials and Hope for the Future: Stephanie provides updates on current trials, discussing the goals and implications for patients with Wolfram Syndrome. Exploring the potential of trials to slow progression or offer hope for a cure. Advocacy and Awareness: The role of advocacy and organizations like The Organization for Rare Disorders in raising awareness and supporting patients with Wolfram Syndrome. Life with Wolfram: An update on Stephanie’s daughter’s current status, prognosis, and how she is managing with Wolfram Syndrome. Closing Thoughts and Advice: Stephanie shares her insights and advice for listeners, emphasizing the importance of advocacy, awareness, and hope in the face of rare diseases like Wolfram Syndrome. As we conclude this insightful conversation with Stephanie Snow Gebel, we are reminded of the resilience, courage, and hope that shine through in the face of challenges posed by Wolfram Syndrome. Join us in raising awareness, supporting research, and fostering hope for a brighter future for individuals and families affected by this rare condition. The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration. Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today! Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

As we delve into the intricacies of ENPP1 Deficiency Disorders, Dr. Yves Sabbagh and Christine O’Brien provide invaluable insights into genetics, diagnostics, treatment, and collaborative efforts between the patient community and pharmaceutical companies. Join us in this illuminating conversation, as we navigate the complexities of GACI and explore avenues for a brighter future in managing these conditions. Yves Sabbagh, PhD, is senior vice president and chief scientific officer, joining Inozyme in October 2020. Dr. Sabbagh brings to Inozyme more than 20 years of experience in rare genetic disorders and mineral metabolism with responsibilities leading to the identification and evaluation of novel therapeutic approaches and translating them into clinical candidates. Prior to joining Inozyme, Dr. Sabbagh served as the head of Rare Renal and Musculoskeletal Diseases research at Sanofi. Prior to that executive role, he held scientific roles of increasing responsibility at Sanofi and Genzyme Corporation spanning endocrine, renal and rare bone diseases including driving the strategy for bone indications. Prior to his corporate experience, he was an instructor at the Harvard Medical School in the Endocrine unit. Dr. Sabbagh has co-authored more than 40 peer-reviewed publications and book chapters and is a member of several scientific societies. Dr. Sabbagh received a BSc in biochemistry from McGill University, an MSc in microbiology from Université Laval and a PhD in biology from McGill University. Christine O’Brien lives outside of Boston, Massachusetts with her husband Michael and their 3 children. Her two oldest children are both living with ENPP1 Deficiency. Her husband and son also have Loeys-Dietz Syndrome. She is a founding member and co-president of GACI Global, the only patient advocacy group that exists for patients with GACI / ARHR2 caused by ENPP1 Deficiency or ABCC6 Deficiency. Prior to joining the ranks of medical mamas everywhere who manage therapies, appointments, and medications, she was an elementary school guidance counselor. Today, in addition to her work with GACI Global, Christine currently juggles raising children with part time jobs as a photographer and the director of customer service at British Swim School of Greater Boston. Episode Discussion Outline Exploring the Genetic Causes: - Dr. Sabbagh explains the genetic causes of GACI, shedding light on the involvement of genes such as ABCC6 and ENPP1. - Does the gene involved determine the type of GACI? Diagnostic Challenges and Genetic Testing: - The necessity of genetic testing for diagnosis and potential programs to offset the cost to patients. - Christine discusses the challenges patients face in obtaining an accurate diagnosis and the impact of the diagnostic odyssey on families. Symptoms and Challenges Across Lifespan: - Understanding the symptoms of ENPP1 Deficiency Disorders throughout the lifespan and the challenges they pose in disease comprehension. - What signs should healthcare providers be aware of across different specialties? Understanding PPi and Its Role: - Dr. Sabbagh elaborates on the role of PPi in the body, highlighting differences in individuals with GACI and its implications. Current Treatment Options and Unmet Needs: - Insights from Dr. Sabbagh on existing treatment options and unmet medical needs in ENPP1 Deficiency disorders. Partnerships and Collaboration: - Christine provides insights into the partnership approach between patient communities and Inozyme Pharmaceuticals. - How does Inozyme collaborate with the patient community to address challenges? Hope for the Future: - Dr. Sabbagh discusses INZ-701 and its potential in addressing the challenges associated with GACI. - An overview of the clinical trial program underway for ENPP1 Deficiency treatment. Future Hopes and Advancements: - Christine shares her hopes for advancements in GACI research, diagnosis, and treatment, emphasizing the importance of continued progress. Links Mentioned In Episode: Prevention Genetics Genetic Testing Program for ENPP1 and ABCC6 Inozyme Pharma and Rady Children’s Institute for Genome Medicine’s Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infant (Including Suspected GACI) GACI Global Organization Inozyme Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up

This episode was originally released on the Patient Empowerment Program podcast, where our host Kira Dineen serves as a Producer. Sometimes you might even hear Kira’s voice in promos and ads. In this podcast, Dr. Stan Crooke and Dr. Gleeson discuss the importance of genomics for neurology and how genetic information is changing how the medical community approaches neurological diseases. Dr. Joseph Gleeson is n-Lorem’s Chief Medical Officer and holds a Rady Children’s Hospital Auxiliary Endowed Professorship of Neuroscience. He is an Investigator with the Simons Foundation for Autism Research Initiative, and an Elected Member of the National Academy of Medicine. Diagnosing a rare disease can be incredibly difficult. Over the past 10 years, advances in genomic sequencing coupled with an explosion of research on the functional consequences of mutations in genes are reshaping how the medical community thinks about rare diseases. Being able to evaluate a patient’s entire genetic makeup often allows physicians to identify mutations in genes that are causal for disease. These mutations can be common, meaning that they are found in many patients with a particular disease. These mutations can be incredibly rare (often one patient in the world; n-Lorem refers to them as nano-rare). For a patient that has a gene mutation that is rare, they often have no therapeutic options. How many patients have mutations that have never been identified? Dr. Gleeson estimates that 90% of all gene mutations that have been identified in recent years have never been identified before. Access to genome sequencing is becoming more and more available and as such, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them. On This Episode We Discuss: The impact of genomic sequencing in medicine The difference between a genotype and phenotype How often a patient is identified with a genetic mutation unique to them Focusing on the underlying cause of disease and not just treating symptoms A viable path for treatment for how many gene mutations? Why he chose to become n-Lorem’s Chief Medical Officer Dr. Joe Gleeson studied chemistry as an undergraduate at UC San Diego. While in college, he frequently volunteered at a hospital and decided that practicing medicine would be a great way to apply his understanding of chemistry. Particularly, he wanted to figure out how the brain works while focusing on brain disease. Dr. Gleeson continued his education by attending the Pritzker Medical School at the University of Chicago, and then completed his residency and fellowship at Harvard. While in medical school, his eyes were opened to child neurology – understanding how the brain forms and how humans mature. Immediately upon practicing pediatrics, Dr. Gleeson noticed that most patients suffering from rare diseases didn’t have or would never receive a diagnosis. It was obvious to him that to change the lives of these patients, researchers must learn more about the diseases to allow physicians to not just treat the symptoms, but to combat the gene to reduce the severity of the phenotypes. Diagnosing a rare disease can be incredibly difficult. Genomics has made a massive difference in the medical field over the past 10 years by allowing doctors to see a patient’s entire genetic makeup. Finding a patient who is the only person in the world affected by a specific disease, or an n-of-1 patient, is surprisingly common. Gleeson estimates that 90% of all mutations identified are unique. As technology advances, the rare-research community is finding it easier to diagnose patients properly with information from databases, leading to an influx of newly discovered gene mutations and n-of-1 individuals. Gleeson and his team at UCSD have identified that out of the over 2 million known human mutations, there is a viable path for ASO or gene therapy treatment for half of them. Dr. Gleeson also serves as the Chief Medical Officer of n-Lorem, aiming to address unique genetic mutations with ASO technology – the ultimate in personalized medicine. Excited and completely bought in, Dr. Gleeson is hopeful that n-Lorem will be able to successfully discover and develop personalized experimental ASO medicines for thousands of patients over the next decade – for free, for life. Please be sure to check out more episodes of the Patient Empowerment Program podcast, just search the title in whatever podcast player you use to listen to DNA Today! Or head over to the podcast’s listing on here n-Lorem’s website. Stay tuned for the next new episode of “DNA Today” next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 other episodes on Apple Podcasts, S

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes you might even hear Kira join as a guest host especially when there will be genetic topics. It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. In this episode, we were honored to have Dr. Andrew Carey as a guest. As a disclosure, Dr. Carey is the co-host Cathy Gildenhorn’s doctor who diagnosed her rare disease, Wolfram Syndrome. Andrew R. Carey, MD (he/him) is an Assistant Professor of Ophthalmology in the division of Neuro-Ophthalmology at the Wilmer Eye Institute. He specializes in neuro-ophthalmic disorders such as optic neuritis, uveitis related papillitis, ischemic & hereditary optic neuropathies as well as diseases of the retina, including age-related macular degeneration, diabetic retinopathy, toxic retinopathies and inherited disorders of the retina such as retinitis pigmentosa. As we unravel the complexities of neuro-ophthalmic disorders and rare diseases, Dr. Andrew Carey provides a wealth of knowledge and guidance. Join us in this enlightening conversation, gaining insights into the diagnostic journey, the detective work of a neuro-ophthalmologist, and the promising future of research in this field. Defining Neuro-Ophthalmology: - An exploration of what neuro-ophthalmology entails and indications of when individuals should seek the expertise of a neuro-ophthalmologist. Eyes as Windows to Rare Diseases: - Discussion on the potential for diagnosing rare diseases through eye examinations. - Identifying the type of eye doctor suitable for evaluating and diagnosing rare diseases. Diagnostic Journey and Recognizing Symptoms: - Dr. Carey shares insights into a typical diagnostic journey, illustrated by Cathy's experience with Wolfram syndrome. - The significance of recognizing atypical symptoms and the role it played in Cathy's diagnosis. Referral Process and Timely Treatment: - Understanding the referral process to a neuro-ophthalmologist. - Strategies to help patients find treatment in a timely manner. Dr. Carey as a Medical Detective: - Dr. Carey's role as a detective in diagnosing various health conditions through eye examinations. - An exploration of different types of optic neuropathies and their distinctions. Communication with Eye Doctors: - Emphasizing the importance of open, detailed, and comprehensive communication about symptoms with eye doctors. Wolfram Syndrome and Rare Diseases: - Dr. Carey's journey of learning about Wolfram syndrome, whether in school or through practical experience. - Insights into diagnosing rare diseases and their genetic components. Demographics of Rare Disease Patients: - Understanding the age demographics of patients with rare diseases – pediatric, adult, or both. Wolfram Research and Future Outlook: - Dr. Carey shares details about his research on Wolfram syndrome and its goals. - How listeners can get involved, learn more, or contribute to support research efforts. The Future of Rare Diseases and Genetic Optic Neuropathies: - Dr. Carey provides a glimpse into the future of rare diseases and genetic optic neuropathies. Closing Advice: - Dr. Carey shares valuable advice for listeners as they navigate potential neuro-ophthalmic concerns or rare diseases. Please be sure to check out more episodes of It Happened To Me, just search the title in whatever podcast player you use to listen to DNA Today! Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we dive deep into two crucial reproductive genetic topics with the knowledgeable and experienced genetic counselor, Kelly Loggenberg. Joining us from Next Biosciences, a Female-led South African Biotechnology company specializing in Reproductive Genetic Testing, Kelly sheds light on Preimplantation Genetic Testing for Aneuploidy (PGT-A) and Genetic Testing of Miscarriage, also known as Products of Conception (POC). Overview of PGT-A: - Kelly provides an overview of Preimplantation Genetic Testing for Aneuploidy (PGT-A) and its role in reproductive genetic testing. - Reasons why patients or couples opt for PGT-A and the decision-making information it provides. NIPS vs. PGT-A: - The distinctions between Non-Invasive Prenatal Screening (NIPS) and PGT-A, exploring conditions that NIPS can screen for that PGT-A may not cover. - The necessity of NIPS when a couple has opted for PGT-A for their embryos. Challenges and Ethical Considerations: - Discussion on the challenges and ethical considerations associated with PGT-A. - How genetic counselors navigate these discussions with patients. Products of Conception (POC) Testing: - Insight into Products of Conception (POC) testing and the situations prompting individuals or couples to choose this genetic testing. - Contribution of POC testing to understanding miscarriages and its role in future reproductive planning. Practical Aspects of POC Testing: - Clarification on whether individuals can bring in tissue for POC testing after a miscarriage at home or if a follow-up procedure is required. Regional Variations and International Experience: - Kelly's international experience in the UK and the potential variations in acceptance or utilization of PGT-A and POC testing in different regions/countries. Technological Advancements: - How technology and advancements in genetic testing have influenced the landscape of reproductive genetic testing during Kelly's career. The Future of Reproductive Genetic Testing: - Kelly's insights into the future of reproductive genetic testing and potential breakthroughs or improvements on the horizon. - Exciting emerging technologies or research areas within reproductive genetics. About Kelly Loggenberg: Kelly holds an MSc (Med) in Genetic Counselling from the University of Cape Town, South Africa, with over 15 years of experience in clinical and research settings. After a decade as a genetic counselor in the UK, she returned to South Africa in 2018. Currently, Kelly serves as the in-house genetic counselor at Next Biosciences, offering valuable advice on preimplantation genetic testing, non-invasive prenatal testing, and products of conception testing to clinicians and patients alike. As we explore the complexities and advancements in reproductive genetic testing, Kelly Loggenberg provides invaluable insights into the present and future of this rapidly evolving field. Tune in to the podcast to gain a deeper understanding of these essential topics and their impact on reproductive health. Be sure to check out Episode 221 of DNA Today that Kelly recommended during the episode. In this episode we interview a couple of her fellow South African Genetic Counseling colleagues, Samantha Bayley and Tina-Marié Wessels. Stay tuned for the next new episode of DNA Today on January 12th! New episodes are released every Friday. In the meantime, you can binge over 270 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Can computers diagnose genetic conditions? Could we train computers to analyze photos of people to help geneticists and other healthcare providers diagnose conditions based on physical features? Join the visionary journey as our host Kira Dineen sits across from the insightful Robert Boscacci, the mind behind "The Spring of Sight," and unravels the intertwining of computer vision and genetic diagnosis. Plunge into a dialogue that traverses Rob's transition from the digital effects of television to the cutting-edge of AI, illuminating the intricate process of equipping computers to decode our visual world and its transformative impact on medical science. Our discussion explores the precise identification of genetic disorders, offering a glimpse into a future where technology and genetics coalesce with astonishing clarity. The episode ascends further as we scrutinize the nuanced realm of data and bias in teaching machines to see. We dissect the transition from traditional rule-based algorithms to the nuanced world of data-driven AI learning, recognizing the significance of diverse datasets in averting biases—a fundamental aspect when addressing diagnoses across a spectrum of conditions, like the distinctive features of Treacher Collins syndrome. Our conversation turns to the challenges healthcare faces in adopting AI, from stringent validations to the delicate dance of applying AI without overshadowing human expertise. Dive with us into the profound implications of AI in healthcare, where the fusion of human and machine intelligence could redefine the horizons of disease diagnosis and treatment. In The Spring of Sight, Robert Boscacci draws from his double background in digital film production and machine learning to explore the utility of computer vision with industry experts. In the burgeoning field of computer vision, researchers and entrepreneurs build systems to extract meaning from digital images in unprecedented new ways, and even generate convincing new synthetic images. As advancements in the field carry in a tidal wave of promising use cases, it becomes increasingly clear that we'll have to implement nuanced policies to contend with their double-edged nature. Robert Boscacci is the former Data Science Lead at Butter Works, a startup that used computer vision to analyze hundreds of thousands of social media videos for clients like Disney+, Netflix, Spotify, and ViacomCBS. He comes from a background in New York City’s film post-production industry, with IMdB credits as a film colorist and dailies technician on Netflix features and episodic productions. Boscacci is curious about how tech policy can become more proactive, so that communities and organizations can maximize the utility and minimize the harm of the cutting edge. He hopes to encourage readers from all walks of life to join the conversation around tech and policy—so that the folks who normally get steamrolled in the name of progress are more empowered to make their voices heard, and those driving the steamrollers become more aware of themselves. Boscacci is the caricature of a millennial Brooklyn hipster: Picture him wearing his nearly non-prescription glasses, dismounting his fixie, and tapping to pay to slurp a single-origin espresso on his way to the nonprofit repertory cinema. He un-ironically holds a fishing license from the state of New York and uses it to catch Bluegill in the lake at Prospect Park. Episode Segments 0:00:43 - Computer Vision for Diagnosing Genetic Conditions 0:04:25 - Exploring the Concept of Computer Vision 0:09:55 - Diagnosing Genetic Conditions With Computer Vision 0:12:07 - Transfer Learning for Vision Models 0:20:40 - Computer Vision in Diagnosing Rare Diseases 0:26:51 - The Importance of Embracing Medical Technologies Be sure to enter our giveaway to win a signed copy of Rob’s book, “The Spring of Sight” via our X (Twitter), Instagram, Threads, and LinkedIn. Look for the post of me and Rob with the book! Can’t wait to see if you win? Buy the book here on Amazon. If you speed read the book in one sitting like our host Kira did, continue reading more from Rob on Medium. You can also watch the shows and films that Rob was on the post-production teams via his IMDb page. And of course he’s on LinkedIn. Stay tuned for the next new episode of DNA Today in 2024! We will be continuing our release schedule of new episodes every Friday. In the meantime, you can binge over 260 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and

We are diving deep into genetic technology, specifically optical genome mapping and transcriptome analysis. Joining us to explore these technologies is Dr. Peter Nagy. Dr. Nagy graduated from Pécs Medical University, Hungary, in 1989. He received his PhD in biochemistry in 1995 from Purdue University. He completed his AP/Molecular genetic pathology residency and postdoctoral fellowship training at Stanford University Medical Center. Dr. Nagy is a member of ASCP and CAP and serves as a CAP laboratory inspector. He is board certified in Anatomic and Molecular Genetic Pathology and has worked as molecular laboratory director since 2004 at the University of Iowa, Columbia University and Medical Neurogenetics Laboratories. Dr. Nagy’s research interest is the development and application of next generation sequencing and other genomic technologies for molecular diagnostics. He has authored more than 30 articles published in such journals as Cell, Molecular Cell, and Proceedings of the National Academy of Sciences. On This Episode We Discuss: Challenges associated with diagnosing rare genetic diseases How various tiers of genetic testing (panels, exome, whole genome) cater to different clinical needs Advantage of optical genome mapping compared to traditional cytogenetic analyses like FISH, chromosomal microarray (CMA), and whole exome sequencing (WES) Power and accuracy of combining whole genome sequencing and optical genome mapping Advantages of transcriptome analysis Navigating discussions with healthcare providers and patients to ensure they understand the implications and benefits of various genetic testing technologies Impact of optimal genome mapping and transcriptome analysis on precision medicine Learn more about Praxis Genomics on their website. Dr. Nagy has done research on the phylogenetic origins of the Árpád Dynasty, check out this paper in which he is the first author and this paper. In this interview we also referenced DNA Today Episode 247 about DMD Exon Skipping. Stay tuned for the last 2023 episode of DNA Today on Friday, December 21st! This is a special interview as I sat down with author Robert Boscacci in NBC Universal Studios to pick his brain about how computer vision can be used as a tool to diagnose genetic conditions. New episodes are released every Friday. In the meantime, you can binge over 265 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are thrilled to welcome guest Blair Stevens, a certified genetic counselor and Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston and Prenatal Genetics media expert for the National Society of Genetic Counselors. Blair joins this discussion to shed light on the clinical utility of ancestry and its use in reproductive genetic counseling spaces. Joining as a co-host today is Dessiah Phillips, a genetic counseling student at Sarah Lawrence College. Together, we will explore ancestry data from both a clinical and educational perspective. Tune in as we delve into how this data is used in personalized medicine and tailoring healthcare solutions. Blair Stevens is a prenatal genetic counselor with over 15 years experience in direct patient care. She is an Associate Professor and serves as the Director of Prenatal Genetic Counseling Services at McGovern Medical School at UTHealth Houston. Blair specializes in helping families understand and adjust to unexpected prenatal diagnoses and counseling families with fetal anomalies identified on ultrasound. She has also served in various leadership positions within the National Society of Genetic Counselors. On This Episode We Discuss: Historical and current use of genetic ancestry in healthcare Approaches and techniques of using ancestry data Challenges of using ancestry data How unknown ancestry impacts healthcare Assessing carrier status of conditions based on ancestry data Ethical considerations and the future for ancestry data Stay tuned for the next new episode of DNA Today on Friday, December 22nd! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2023. It’s hard to fit a year’s worth of genetics in one episode, let alone a half hour so we bring you this special double episode of DNA Today. Our host Kira Dineen is joined by two leaders in genetics, Dr. Eric Green and Dr. Brendan Lee. Dr. Eric Green Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). 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. 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). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182 when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260. He was also on last year’s Genetic Wrapped episode (#214). Dr. Brendan Lee As a pediatrician and geneticist, the overall mission of Dr. Brendan Lee’s research program is to translate the study of structural birth defects and inborn errors of metabolism into a basic understanding of development, disease and novel therapeutic approaches. In the area of metabolism, we have applied genetic approaches to the study of biochemical genetic disorders (specifically urea cycle disorders) as models of complex diseases (those involving nitric oxide dysregulation). This has led us to study the consequences of metabolic derangements broadly in the endocrine, cardiovascular, skeletal, renal and neurological systems. In the area of structural birth defects, we have studied paracrine and endocrine signaling pathways that regulate skeletal development including morphogens (TGF, Wnt and Notch), and extracellular matrix proteins and their modifications (e.g., collagen prolyl-hydroxylation) that contribute to the human skeletal dysplasias including brittle bone diseases and connective tissue diseases like Ehlers-Danlos syndrome. These developmental pathways have led us to ask how their dysregulation contributes to common diseases such as osteoporosis, osteoarthritis and bone cancer. The mechanistic discoveries of my laboratory research program are translated into the clinical arena via clinical research that is performed as part of the Skeletal Dysplasia Clinic and the Metabolic Disorders Clinic at Texas Children’s Hospital, respectively, and as part of two NIH rare diseases clinical research consortia (the Brittle Bone Disorders Consortium and the Urea Cycle Disorders Consortium). My clinical research program began with stable isotopic measurements in humans and urea cycle disorder patients to better diagnose and assess new treatments. These human studies evolved into the assessment of nitric oxide flux in patients with UCDs and specifically in those with argininosuccinic aciduria. I have participated in and led both investigator-initiated and industry-sponsored interventional studies including the design and implementation of Phase II and III studies of a novel ammonia scavenger glyceryl-triphenylbutyrate in urea cycle patients; combinatorial phenylbutyrate/arginine treatment and nitric oxide supplementation in patients with argininosuccinic aciduria; and phenylbutyrate in maple syrup urine disease. In the area of skeletal dysplasias, I have studied the utility of zoledronic acid, teriparatide and anti-TGF treatments in pediatric and adult osteogenesis imperfecta. Our preclinical gene therapy studies have led to a clinical trial of helper-dependent adenoviral gene therapy in osteoarthritis. Finally, I have focused on advancing the diagnosis of genetic diseases

Nebula Co-Founder Kamal Obbad analyzes our host Kira Dineen’s genome! Whole genome sequencing, once a futuristic concept, has now become an integral part of the genetic landscape. When this groundbreaking technology first emerged, it came with a staggering price tag. Picture this: It's 2003, and the Human Genome Project has just been completed, costing nearly $3 billion to sequence a single human genome. Fast forward 20 years to today, this looks radically different. Thanks to remarkable advancements in technology, the price of whole genome sequencing has plummeted to a fraction of what it once was. Nebula Genomics offers consumers whole genome sequencing and lifetime memberships for only $300. Yeah, that’s it; $300. So our host Kira Dineen couldn’t resist and sent off her cheek swab to Nebula to have her whole genome sequenced for the first time. To explore the results we are joined by Kamal Obbad, who is the co-founder of Nebula Genomics. Previously, he was a product manager at Google working within Google Research and ChromeOS. Kamal was a Gates-Cambridge Scholar at the University of Cambridge and is a graduate of Harvard University. Additionally, he is a Forbes 30 under 30 honoree. On This Episode We Discuss: Pioneering Geneticist Dr. George Church’s role with Nebula Genomics Inspiration to start Nebula Genomics Key benefits of having access to one's entire genome compared to limited genetic testing (like gene panels or even exomes) How Nebula helps consumers understand the 100 GBs of data produced from their whole genome sequence What whole genome results provide and how scientifically accurate results are for each trait The process to decide what categories to include in Nebula’s WGS kit including autoimmunity, behavior, cancer, cardio, metabolism, and pregnancy. Requirements for how much data needs to be able to back up the information in the reports How Nebula comes up with the likelihood for behavioral traits Exploring how people should or should not use the health related information How often people should check back with their whole genome sequencing lab for updates Additional traits Nebula is considering adding in the future If you too want to have your whole genome sequenced by Nebula Genomics use code “DNATODAY” for 15% off here! We also are giving away a kit, so head over to our social media @DNATodayPodcast on Instagram, LinkedIn, X and Threads to enter. Keep up with Kamal on X (formerly Twitter) and LinkedIn. Also check out this cool article featuring Kamal. Stay tuned for the next new episode of DNA Today on December 8th! New episodes are released every Friday. In the meantime, you can binge over 260 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Ryan is the president and founder of California based non-profit, Living with XXY. Ryan is a 37 year-old with Klinefelter syndrome or 47,XXY. Klinefelter syndrome is the result of an extra X chromosome, affecting roughly 1 in 500 males. Ryan’s parents learned about his XXY diagnosis during his mother’s pregnancy. His experiences navigating XXY and those of the over 600 families he’s met along the way help guide and inspire the work Ryan does today. While Ryan’s background includes work as a fine dining chef and action sports photographer, he currently spends most of his time advocating for his community through his non-profit. Living with XXY was officially established in 2019 and focuses on creating a community, spreading awareness and sharing positive traits for those with an XXY diagnosis. Living with XXY is growing everyday and has a reach of over 40 countries. Ryan is currently traveling around the US, meeting with clinics, professors/students, other professionals and families to share the work of Living with XXY and create opportunities for connection for those with XXY. On This Episode We Discuss: Basics of Klinefelter Syndrome aka XXY Processing his diagnosis at the age of 9 years old Symptoms and challenges that people with XXY experience How symptoms can differ for people who are mosaic with XXY Taking testosterone Typical way of learning of the XXY diagnosis XXY affecting about 1 in 500 babies assigned male at birth, but historically, it’s been underdiagnosed (only 25% diagnosed in their life) The effect of NIPS changing how many people are diagnosed with XXY Debunking myths about XXY Positive traits many people with XXY have in common such as being “right brained” Support and resources “Living with XXY” offers to families and individuals affected by Klinefelter syndrome How “Living with XXY” engages with the medical community to promote more accurate understanding and care for individuals with XXY The global reach of “Living with XXY” with a presence in over 40 countries Links mentioned during the episode: Living with XXY Resource Sheets (Kira’s Fav she gives to patients) Living with XXY Podcast Strategies and advantages of early diagnosis in Klinefelter's syndrome Facebook Support Group Stay tuned for the next new episode of DNA Today on December 1st! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We return in person to record at NBC Stamford Studios to learn about Ehlers-Danlos syndromes, we are joined by cardiovascular genetic counselor, patient advocate, and YouTuber Izzy Kornblau. Izzy Kornblau, MS, CGC, is a cardiovascular genetic counselor at the Mount Sinai Medical Center in New York. Izzy has over 3 years of research experience in the Ehlers-Danlos syndromes (EDS). Her current research focus is investigating the genetic etiology of hypermobile Ehlers-Danlos syndrome using a candidate gene first identified by the medical university of South Carolina. Izzy began making YouTube videos in 2018. content includes educational videos about genetics, genetic counseling, EDS, and navigating the healthcare system and social situations with a chronic illness. She graduated with a master’s of genetic counseling from the Icahn School of Medicine at Mount Sinai in 2023 and completed her undergraduate degree at Washington University in St. Louis in 2019. She has over 45,000 YouTube subscribers with over 100 published videos. On This Episode We Discuss: Izzy’s Youtube channel success covering genetics, genetic counseling, EDS, and navigating healthcare with a chronic illness. Insights into Ehlers-Danlos syndromes: Understanding different types under the EDS umbrella and their impact on individuals and families. Personal journey: A genetic counselor and individual with EDS – how personal experience shapes genetic counseling approach. Personal insights in supporting patients and families dealing with EDS: Leveraging firsthand knowledge to provide effective support. Signs and referrals for EDS evaluation: Addressing the often-overlooked condition and signs that may prompt a genetics referral. Challenges and opportunities in career as a genetic counselor with EDS: Shaping perspective and influencing genetic counseling approach. Advice for those newly diagnosed with EDS: Providing guidance, especially on self-advocacy. Fostering community and support: Building connections for patients and peers dealing with genetic conditions. Research on hypermobile EDS genetic etiology: Investigating candidate genes and contributing to the understanding of the condition. Research background informing genetic counseling: How a research background shapes the approach to genetic counseling, particularly in EDS. Tips for navigating genetic conditions and healthcare: Advice for individuals and families facing challenges in these areas. Key issues in genetics and healthcare accessibility: Discussing important challenges that need more attention. Importance of raising awareness about genetic conditions: The impact on early diagnosis and treatment. Legacy in the field of genetics: As a counselor and content creator, the desired impact on the field and community. Check out Izzy’s YouTube channel. We recommend this video where Kira and Izzy react to genetic scenes in TV shows like Glee, Grey’s Anatomy, and Broad City. Stay tuned for the next new episode of DNA Today on Friday November 24th, 2023! New episodes are released every Friday. In the meantime, you can binge over 260 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

On DNA Today we are often exploring how genomic data is altering healthcare. We will continue to do so in this episode with the CEO of Igentify, Dr. Doron Behar. He holds MD and PhD degrees from the Technion - Israel Institute of Technology. We are going to dive into the genetic counseling bottleneck and how companies like Igentify, are working to alleviate it. Dr. Doron M. Behar, CEO, Igentify holds an MD and PhD degrees from the Technion - Israel Institute of Technology. At his capacity as an MD he graduated two specialization programs in Internal Medicine and Critical Care Medicine in Rambam Medical Center, Haifa Israel and a third specialization program in Medical Genetics at the Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus. In parallel, his PhD thesis was in the field of Population Genetics. Dr. Behar's research area of interest is across the broad range of evolutionary genomics, ancestry, phylogenetics and translational genomics. Dr. Behar has multi-year background experience in the development of genetic testing for the public, using a direct internet based customer approach, at his capacity as the chief medical officer of Gene by Gene Ltd. During the course of his work he gained expertise in the various aspects of mass genotyping, including regulation, privacy, database creations and mining, website designs, automation, machinery, genetic analysis, quality reassurance, and more. His primary interest is in developing robust, low-priced genetic testing to the general public that will allow the hope of responsible and personalized genetic medicine to any individual, worldwide. On This Episode We Discuss: Leveraging technology to alleviate the pressure and effects of burnout How to ensure we don’t lose a personal connection in the age of digital age The role of precision medicine in the genomics revolution Challenges of implementing technology in the healthcare system presents challenges The “Genomic Wallet” allowing our genetic information to be accessible Advances in genomics on the horizon Learn more at igentify.com. Stay tuned for the next new episode of DNA Today on Friday, November 17th! New episodes are released every Friday. In the meantime, you can binge over 260 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are learning about tuberous sclerosis complex (TSC) and are joined by guest Dr. Ian Miller. Dr. Ian Miller is a pediatric epileptologist who specializes in pediatric epilepsy, including genetic epilepsy. He is an advocate for genetic testing in every individual with epilepsy, even if they already have a "syndrome". He serves as Vice President in Clinical Development at Marinus Pharmaceuticals. Dr. Miller has 14 years of experience at Nicklaus Children's Hospital in Miami, where he most recently served as the Chair of the Neurology Department, and on the Board of Directors for First Choice Neurology (a private practice of over 80 neurologists). Within the hospital he was the founding Medical Director of the Ion Channel Epilepsy Program, co-Director of the Tuberous Sclerosis Program, and the Director of Neuroinformatics. Dr. Miller’s research experience includes participation in all five of the pivotal trials for cannabidiol, including one as a first author. He was also a primary investigator for fenfluramine, nasal diazepam, and neuropace, among others, and has provided input regarding trial design and endpoints for three early gene therapy candidates in SCN1A, and enrolled patients in one of them as PI. He is a member of the Medical Advisory Board for the Dravet Syndrome Foundation (DSF), and a member of the American Epilepsy Society. He is board certified in Neurology with a special qualification in Child Neurology, as well as Clinical Neurophysiology, Epilepsy, and Neuroimaging. Dr. Miller testified with the DSF at the FDA in 2018 regarding the need for an ICD10 code for Dravet syndrome, leading to the approval of the G40.83 and its subgroups in October of 2020. Dr. Miller received his M.D. degree from the University of Iowa, in Iowa City, where he grew up. He completed residency and fellowship training at the University of Utah and the University of Washington before completing Clinical Neurophysiology fellowship at Miami Children’s Hospital. On This Episode We Discuss: Overview of TSC Methods to diagnose TSC The genetics and potentially inheritance behind TSC Common early signs of TSC include skin abnormalities, seizures, and developmental delays Early intervention including medications and surgical procedures Challenges faced by individuals with TSC include managing seizures and cognitive difficulties The Marinus TSC clinical trial, currently in phase III To learn more about participating in clinical studies for TSC, you can visit knowrare.com/tsc or trusttsctrial.com. You can also visit TSC Alliance, the organization that Dr. Miller recommended during the episode. Stay tuned for the next new episode of DNA Today on November 10th! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are sharing the twenty-fifth installment of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. She interviewed a panel of international industry leaders in clinical genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the benefits, roadblocks, and practical implications of applying population genomics in clinical practice. Applying population genomics in clinical practice has the potential to revolutionize healthcare by enhancing disease prediction, enabling personalized medicine, and advancing medical research. By leveraging the wealth of genomic information available, clinicians can provide more targeted and effective treatments, ultimately improving patient care and outcomes. However, essential concerns such as ethical considerations, data privacy, and the responsible use of genetic information, must be addressed as population genomics becomes an increasingly integral part of modern medicine. Dr. Eric Green is the third appointed director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Appointed director by Dr. Francis Collins in 2009, Dr. Green has been at the Institute for more than 25 years, during which he has held multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes. During his career, Dr. Green has authored and co-authored over 385 scientific publications. Dr. Julian Barwell is a consultant in clinical genetics at the University Hospitals of Leicester with a particular interest in public engagement, stakeholder group co-creation, and the implementation of genomic medicine projects. His outreach work includes launching the cancer genomics branch of the 100,000 genome project on the BBC Breakfast sofa, co-authoring the children's book, “What is DNA?”, as well as answering clinical queries for the National Hereditary Breast Cancer Helpline. In addition to his over 70 academic publications and chapters in four other books, he has helped establish prostate cancer tumour sequencing for BRCA pathogenic variants and led an awareness and outreach campaign for men at high risk of aggressive disease. Currently, Dr. Barwell is developing a digital genomic strategy including patient self-navigation guides for patients with Lynch syndrome, aiming to expand this to other patient groups. He is also developing an interventional research strategy and holistic care clinic for Fragile X syndrome in partnership with the Fragile X Society and Research Space, a clinical research facility he co-established. As a Professor at the University of Leicester, Dr. Barwell lectures on inherited cancer susceptibility, cancer genomics, bioethics, 21st-century healthcare, and working with different types of media. Dr. Fiona Brinkman is a Distinguished Professor in Bioinformatics and Genomics at Simon Fraser University, most known for R&D of widely used software that aids more integrative, systems-based analyses of microbe and human genomics/transcriptomics data. She leads CHILDdb data integration, enabling more integrative analysis of diverse CHILD Cohort Study data, as well as co-leading development of the IRIDA platform, which is now used as the primary platform for Canada’s Public Health Agency to track infectious disease outbreaks using combined epidemiological, lab and genomics/metagenomics data. Dr. Brinkman enables better genomic data sharing in an ethical framework by co-coordinating two large consortiums consisting of researchers from 15 countries. Dr. Brinkman serves on several committees and Boards, including the Scientific Advisory Board for the European Nucleotide Archive, and has recently Co-Chaired a Pan-Canadian Cohorts Working Group. A fellow of the Royal Society of Canada, her awards include a TR100 award from MIT, Thompson Reuters “World’s Most Influential Scientific Minds”, and recently a Distinguished Alumni Award from the University of Waterloo and SFU Distinguished Professorship. Her interests include developing more preventative, sustainable approaches for disease control, using microbiome data as a sentinel for animal or ecosystem health, and factoring in Indigenous Science approaches. Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has over a decade of podcast experience fueled by a passion for science communication. She has hosted and/or produced 7 podcasts including four rare disease/genetics shows. Her main genetics podcast, DNA Today, is in the top 1% of podcasts globally. The show has won the Best Science and Medicine Podcast Award for three years running, among others. DNA Today has produced 250

We want to acknowledge the war in the Middle East and its impact on this conference from a canceled session to protests close to the conference center. Regardless of how we view the war, it’s important we listen and support one another. You might be wondering why this episode was not released Friday morning like all of our episodes for the last few years… Well, we were busy at The National Society of Genetic Counselors Conference in Chicago which just wrapped. In order to be able to fully reflect on the conference we wanted to hold off on recording until the last day. Also this is why our host Kira Dineen’s voice is so strained because she was talking to so many of you. Our hearts are full! NSGC was incredibly fun this year! It was amazing to meet so many of you. Podcasting is very one way compared to other forms of digital media so it’s such a treat every year to meet people in person including many listeners who are genetic counselors and genetic counseling students. If we didn’t get to chat, please email in ([email protected]). Host Kira Dineen (she/her) is joined by fellow genetic counselor Catherine Mayo to recap and reflect on NSGC this year. Catherine Mayo (she/her), is a Genomic Science Liaison at Ambry Genetics. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. Opinions in this episode are her own. Check out Catherine’s other appearance on DNA Today where we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. That’s Episode #110. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. October is also the 26th year anniversary of the movie’s release so our Patreon group is hanging on Zoom later this month to nerd out about it together! If you haven’t watched it, Gattaca is about a futuristic society where there is this disparity between people who were naturally conceived and those who were conceived through ART and are “designer babies”. National Society of Genetic Counselor (NSGC) 2023 Conference Sessions Discussed: You Can Do It, Too! Genetics Content Creation and Science Communication via TikTok, Instagram, Podcasting, YouTube, LinkedIn and More Janus Lecture - Family History: Exploring the Roots and Branches NSGC Professional Issues Panel: How to “Widen the Frame” and Bring Intersectionality to Your Genetic Counseling Practice Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor" More info and discussion here The Most Important Omics of All: Economics of Healthcare Across Private, Public, and Not-for-Profit Organizations How to Build a Somatic Testing Protocol in Oncology: We’re Building the Plane While We’re Flying It Late Breaking Plenary Session: Embracing Artificial Intelligence in Genetic Counseling: Transforming Patient Care and Enhancing Clinical Outcomes Readings Referenced: The Practical Guide to the Genetic Family History By Robin Bennett (March 2010) The Spring of Sight By Rob Boscacci (May 2023) Abandoning the word Caucasian (Oct 2023) Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors (Sept 2022) Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors (Sept 2008) Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors (Sept 1995) Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions (Aug 2023) Scientists release a new human “pangenome” reference (May 2023) DNA Today Podcast Episodes Referenced: #110 Gattaca, 22 Years Later #182 Eric Green on the Complete Human Genome Project #189 Building Inclusive Pedigrees with PhenoTips #231 ChatGPT and AI In Genetics with Daniel Uribe #235 Genetic Counseling History: ABGC Formation #243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care Curious about other NSGC conferences? We have recapped the last five years of conferences including 2019, 2020, 2021, and 2022. Stay tuned for the next new episode of DNA Today this Friday! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media I

Prepare to uncover the mystifying realm of genetics as we bring you a thought-provoking conversation with Meena Mahey Kumar and Laura Fuqua from Blueprint Genetics. Together, we'll explore the pivotal role that human touch plays in interpreting genetic data, emphasizing the irreplaceable importance of meticulous analysis and individualized patient care. You'll learn how their unwavering dedication to transparency in classifying variants is a game-changer in patient outcomes. You'll be captivated as Meena and Laura recount a riveting real-life instance of how technology, clinician collaboration, and data interpretation converged to bring about transformative medical management for a pregnant patient. Discover the intriguing concept of mosaicism and its profound influence on genetic interpretation. They will also shed light on the challenges and nuances of genetic testing, underscoring the vital necessity of human involvement in this complex process. Our guests will also reveal how their trailblazing team at Blueprint Genetics has created innovative tests, pushing the envelope in coverage and detection of smaller deletions. We'll delve into the complexities of genetic testing and introduce you to the bioinformatics team's contribution at Blueprint Genetics. You'll understand how their unique 'human touch' continues to enhance patient care. Meena and Laura discuss the ongoing evolution in the field of genetics and how we can leverage these advancements to better serve patients and the wider community. Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the clinical genomics services (CGS) team at Blueprint Genetics. She actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of Science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient- centered healthcare and diversity in genomics. She supports efforts to make high quality genetic diagnostics accessible across the world and works to continuously add to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult and prenatal genetics clinic setting before working in commercial genetics laboratories leading sales & marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes. Laura Fuqua is a Genomic Variant Scientist for Blueprint Genetics. As part of the global Clinical Interpretation team, she analyzes variants for their pathogenicity in human disease and collaborates across Blueprint and Quest to build genomic services. A proud member of the BpG Inclusion and Diversity subcommittee and the Quest Pan Asian Business Leaders provides opportunities for a welcoming and thriving workplace. Laura maintains active board certification by the American Board of Genetic Counseling and earned a master’s degree in genetic counseling from Brandeis University. Laura’s previous decade-long experience encompasses caring for and managing comprehensive medical care for patients with a personal or family history of genetic conditions, notably hereditary cancer and maternal fetal medicine. Currently, she is a member of the ClinGen Consortium TP53 gene expert panel, working to elucidate the clinical significance of VUSs for patients with Li Fraumeni syndrome. Learn more at blueprintgenetics.com and follow Blueprint Genetics on X (Formly Twitter), Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today where we will be recapping the National Society of Genetic Counselors’ Annual Conference in Chicago next week! Our host, Kira Dineen, will be there, so say hi if you run into her. Blueprint Genetics will also have a booth at NSGC so stop by as you explore the exhibit hall. New episodes are released every Friday. In the meantime, you can binge over 250 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

If you are a long time listener of DNA Today you know how fascinating and frightening we find CRISPR, you must be too if you clicked on this episode. So I wanted to share with you a new podcast I have started listening to called A CRISPR Bite. This is the first episode to get you hooked. CRISPR gene-editing technology came out as a massive biotech breakthrough in the last decade, but most people have still never heard of it. A CRISPR Bite is a five-part podcast series where food anthropologist Dr. Lauren Crossland-Marr takes listeners into the labs where researchers are tinkering with food genes, to help break down the problems they’re hoping to solve – and what’s at stake. Stream the other four parts of this podcast series by searching, “A CRISPR Bite” in your podcast app. Let me know if you enjoy it as much as I am! And if you finish the series and want more episodes that discuss CRISPR, I recommend listening to DNA Today’s Episodes 197, 198 and 84. Stay tuned for the next new episode of DNA Today next Friday on October 13th where we explore the interpretation side of reporting and discuss how important the “human touch” element is to the process. For this conversation I will be joined by Blueprint Genetics’ Senior Director of Clinical Genomics’ Meena Mahey Kumar and Genomic Variant Scientist Laura Fuqua. If you are going to the NSGC conference in Chicago in a couple weeks then be sure to stop by the Blueprint Genetics Booth! New episodes are released every Friday. In the meantime, you can binge over 250 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, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is the second half of our conversation about an important topic in genetic counseling that is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson. Before you listen to this episode please listen to the first part of the discussion on Episode #255. Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. On This Episode We Discuss: How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles Creating awareness, especially for prospective and current GC students, within the genetic counseling community about the potential for burnout and the importance of mental health Advice for current genetic counselors who may be experiencing burnout or contemplating a career change Hopes for the future of genetic counseling and how it can continue to positively impact patients and practitioners alike While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly. Stay tuned for the next new episode of DNA Today on October 6th. New episodes are released every Friday. In the meantime, you can binge over 255 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on X, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Over the next two episodes, we are discussing an important topic in genetic counseling that definitely is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson. Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. On This Episode We Discuss: Tiana’s and Nira’s journeys to becoming genetic counselors and the most rewarding aspects of their roles Factors that can contribute to GC burnout Challenges our guests faced while working in clinic and non-direct patient setting and how did they impacted their mental health Strategies and resources to help cope with burnout and support to address mental health concerns in the GC field How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly. Be sure to check out our social media channels for details to enter our giveaway of artwork from Nira! Stay tuned for the next new episode of DNA Today on September 29th, 2023 where we’ll be continuing our conversation with Tiana and Nira on genetic counseling burnout! New episodes are released every Friday. In the meantime, you can binge over 255 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. This interview explores… Basics of Bardet Biedl Syndrome (BBS) What their OB/GYN discovered Meeting with prenatal genetic counselor Testing during pregnancy and after birth Sequence of tests leading to BBS diagnosis When and how they learned about the condition Coping with the diagnosis news Timing of Everett's BBS diagnosis Outlook for quality and length of Everett's life Everett's current quality of life and symptoms Experience with seizures, onset, and medication Vision loss, adaptation, and legal blindness Dealing with obesity or insatiable hunger Participation, goal and outcome of the clinical trial Surgeries for extra fingers and toes Everett's current status as a teenager Additional symptoms developed since childhood Remaining BBS symptoms not experienced by Everett BBS community, connections, and resources Advice for parents of undiagnosed diseases This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website. Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are discussing inborn errors of immunity, with a particular focus on chronic granulomatous disease (CGD). Joining us for this episode is rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell. Felicia Morton, is the Founder and Executive Director of the CGD Association of America. Felicia has been a well-known advocate for the CGD community for more than a decade armed with her family’s personal experience. Torry Howell, is a clinical genomic liaison at Blueprint Genetics. She received her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas. On This Episode We Discuss: Inborn errors of immunity (IEIs) and types of conditions that fall under this umbrella term Genetic testing for IEIs and how earlier diagnosis can impact a patient’s treatment decisions Chronic granulomatous disease (CGD) Felicia’s personal experience as a carrier of CGD and parent of a son with CGD Stem cell treatment for CGD The importance of collaboration between patients, caregivers, advocacy groups, and medical experts in improving the lives of those affected by CGD and IEIs Important links and resources mentioned during the episode: NIH’s Division of Allergy, Immunology, and Transplantation CGD Association of America Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee Stay tuned for the next new episode of DNA Today on September 15th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This episode was originally recorded for It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins this podcast as a guest host especially when there will be genetic topics, like in this episode. This episode was extra special as DNA Today’s Communications Lead Corinne Merlino was the guest! Corinne was also a guest on Episodes 245 and 246 where we answered listener’s questions about the genetic counseling graduate school application process. This was recorded in NBC Universal’s Stamford Studios so we recommend watching it on YouTube! Corinne was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling. Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients. In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania. During the episode we mentioned Philly Phaces and the book and film Wonder. Stay tuned for the next new episode of DNA Today on September 8th where we will discuss inborn errors of immunity with a Blueprint Genetics clinical genomic liaison, Torry Howell and the Founder and Executive Director of the CGD Association of America, Felicia Morton. New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Episodes in the last three years have also been recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our Communications Lead is Corinne Merlino. Our Video Lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.

Currently, an overwhelming number of DNA samples used for research are from people of European ancestry, making many populations from across the globe underrepresented in genomics research. (NHGRI) In this episode, we explore an important issue in healthcare, diversifying genetic research, with two experts from 23andMe Dr. Ruth Tennen is a product scientist at 23andMe. In this role Dr. Tennen develops new genetic health reports with the goal of helping 23andMe customers access, understand, and benefit from the human genome. Before joining 23andMe, she served as a science policy fellow at the State Department, helping promote science education and entrepreneurship in Africa, and as a lecturer at Stanford, teaching courses on experimental design, bioethics, and cancer. Ruth loves learning about and talking about science, and throughout her career, she has worked to inspire budding scientists by mentoring and teaching students at local schools, hospitals, and museums. Ruth received her bachelor's degree in molecular biology from Princeton and her Ph.D. in cancer biology from Stanford. Dr. Anjali Shastri is a Senior Program Manager at 23andMe. A research scientist by training, she manages programs that increase access to genetic testing, improve representation in genomic studies, and further impactful genetics research (like 23andMe's 1 million-participant COVID-19 Study), so that more people can benefit from 23andMe's health and ancestry products, services, and research. Previously she worked at the U.S. Department of State, Department of Health and Human Services, and the National Academy of Sciences, advancing science-based policies and coordinating global health projects. Anjali received her PhD in Immunology from Stanford University where she was a Diversifying Academia and Recruiting Excellence fellow and National Science Foundation graduate research fellow. Throughout her training and career, Dr. Shastri has led efforts to improve representation and health outcomes for all people. On This Episode We Discuss: Changes in recent years with the diversity in genetic research The importance of increasing the amount of diversity in genetic research and the impact it can have on improving healthcare outcomes Roles that genetic testing and personalized medicine can play in addressing health disparities among different populations 23andMe’s collaboration with Morehouse School of Medicine, the first such collaboration between a genetic testing company and a Historically Black Medical College (HBMC), and how it aims to improve diversity in genetic research specifically for sickle cell disease Challenges faced in expanding diversity in genetic research, and how is 23andMe working to overcome them Goals of the African American Sequencing Project Information included in 23andMe’s sickle cell screening report and challenges and considerations when it comes to providing genetic information related to sickle cell disease when it’s direct-to-consumer 23andMe’s goals and initiatives for diversifying genetic research and improving healthcare outcomes for all populations Links to studies, websites, and press-releases mentioned in this episode: Press release: Morehouse School of Medicine, Sickle Cell Foundation of Georgia and 23andMe Launch Sickle Cell Carrier Status Awareness Program The U.S. Public Health Service Syphilis Study at Tuskegee Low LDL and PSK9 study Georgia Sickle Cell Disease Foundation DNA Today Episodes related to diversifying genetic research and mentioned in episode: #214 2022 Genetics Wrapped with Eric Green #117 Dr. Janina Jeff on African Genomes #34 Henrietta Lacks (HeLa cells) Stay tuned for the next new episode of DNA Today on September 1st, 2023 where we’ll be sharing an episode of It Happened to Me podcast featuring our Communications Lead Corinne Merlino, who shares her experience of having Pierre Robin Syndrome, just in time to in honor of the condition’s awareness day! New episodes of DNA Today are released every Friday. In the meantime, you can binge over 250 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter. In our conversation we will dive into some of the genetic concepts explored in the show. Warning there will be spoilers for both the TV show and the podcast!!! Madeline Ashby (she/her) is an author among many other creative roles and talents. She graduated from the first cohort of the M.Des. in Strategic Foresight and Innovation programme at OCADU in 2011. It was her second Masters degree. (Her first, in Interdisciplinary Studies, focused on cyborg theory, fan culture, and Japanese animation!) Since 2011, she has been a freelance consulting futurist specializing in scenario development and science fiction prototypes. Her work has appeared in BoingBoing, Slate, MIT Technology Review, WIRED, The Atlantic, and many other notable places. She penned a trilogy of novels starting with vN: The First Machine Dynasty along with other books. Check out her IMDb profile for more info. She is also a writer on our host Kira Dineen’s favorite science fiction podcast of all time: Orphan Black: The Next Chapter. Orphan Black is a thought-provoking sci-fi thriller that explores a world of clones. The main character Sarah runs into someone who looks like her twin, and Sarah figures out she is actually her clone. The story takes off from there of Sarah discovering she is just one of many genetically identical clones, each with their own unique personality and skills. They all navigate a treacherous web of deceit, corporate intrigue, and scientific experimentation. The show ran for 5 years between 2013-2017 before the podcast spinoff was announced. On This Episode We Discuss: The motivation behind continuing the Orphan Black story in podcast format How the show explores the issue of genetic privacy and the downstream effects on relatives of the clones and real-world considerations in genetic data sharing and data privacy How plausible the idea of bio weapons and designing viruses to attack specific individuals based on SNPs, touched on in the show, is in reality and the ethical implications Ethical violations explored in the podcast including uninformed, forced vaccination, and how they parallel real-world bioethical concerns Storing genetic data in the podcast and tv show versus the real-world We talked a lot about science fiction on this episode, but we wanted to share some exciting developments in the real-world of genetic research that could allow same-sex couples to share biological children someday: TIME: Get Ready for Embryos From Two Men or Two Women NPR: Startup aims to make lab-grown human eggs, transforming options for creating families Stay tuned for the next new episode of DNA Today on August 25th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are joined by two genetic counselors to explore the experience of being a male in our field. John Zimmerman, MS, CGC, is a certified genetic counselor at UT Southwestern Medical Center. John completed his genetic counseling training at the University of Minnesota in 2017 and has since worked as a clinical genetic counselor with the UT Southwestern Cancer Genetics Program. Recently, he has taken on the additional role of Director of Fieldwork for the UT Southwestern Genetic Counseling Program. John is an active member of the National Society of Genetic Counselors, serving on the Access and Service Delivery Committee. He is also the current president of the Texas Society of Genetic Counselors. Daniel Riconda, MS, CGC, (he/him) is a certified genetic counselor and Associate Professor at Baylor College of Medicine (BCM) in Houston, Texas who received his M.S. in Genetic Counseling from Sarah Lawrence College in 1988. He obtained certification by the American Board of Medical Genetics in 1990 and became certified as a founding member of the American Board of Genetic Counseling in 1993. He is also a certified Resolve Through Sharing (RTS) bereavement counselor. In 2016 he joined the Department of Molecular and Human Genetics at BCM and School of Health Professions to lead the coordination, design, and development of a Master of Science Genetic Counseling program and is now serving as the Program Director. He has been serving as a project manager of Consultagene, an online tele-genetic counseling and educational resource at BCM, since 2016. He currently sees patients for cancer genetic counseling in the Adult Genetics Clinic at BCM. He has served as an At-Large Board member for the NSGC BOD (2015-2016) and has previously served as a member of that organization’s ethics committee, public affairs committee and co-chair of their subcommittee on licensure. He served a 5 year term (2002-2006) as an (elected) board member of the American Board of Genetic Counseling (and as chair of the Accreditation committee for 3 years), served as the program services committee chairperson for the Florida March of Dimes, and has served on both the Florida & Texas public affairs committees for the March of Dimes. In 2010, he was selected as one of nine-videotaped “Master Genetic Counselor’s” for training videos that were distributed to all of the Genetic Counseling training programs across North America. He has been actively involved in genetics education and licensure activities at the local, state and national level. He is currently an invited member of the ASHG Membership Engagement Committee, is a member of the ACGC Standards Committee, and served on the Association of Genetic Counseling Program Directors (AGCPD) DEI Committee. In 2022 he received a Norton-Rose-Fulbright Faculty Excellence Award for Educational Leadership. Prior to joining Baylor, he developed and coordinated prenatal, pediatric, specialty clinics and oncology related genetic counseling services at Winnie Palmer and Arnold Palmer Hospitals in Orlando, Florida for more than 2 decades. On This Episode We Discuss: Navigating a profession that is predominantly female as male genetic counselors Unique perspectives and contributions that male genetic counselors bring to the field, and how it benefits patients and the overall genetic counseling profession Challenges and stereotypes our guests have faced as male genetic counselors and how they’ve addressed or overcome them How the percentage of male genetic counselors has changed over the years Steps that can be taken to encourage more men to enter the genetic counseling field and to support their growth and success once they are part of the profession Advice for men considering a career in genetic counseling or those who have recently entered the profession How male GCs are impacting the average salary How our guests see the role of male genetic counselors evolving and contributing to the advancement of the genetic counseling field Links to resources and references we mentioned in this episode: Minority Genetics Professional Network (MGPN) NSGC's Professional Status Survey Chen A, Veach PM, Schoonveld C, Zierhut H. Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession. J Genet Couns. 2017 Oct;26(5):948-962. doi: 10.1007/s10897-017-0071-1. Epub 2017 Mar 14. PMID: 28289854. Kopesky JW, Veach PM, Lian F, Leroy BS. Where are the males? Gender differences in undergraduates' interest in and perceptions of the genetic counseling profession. J Genet Couns. 2011 Aug;20(4):341-54. doi: 10.1007/s10897-011-9365-x. Epub 2011 Apr 20. PMID: 21505919. Barnett, C., Myers, M. F., Spaeth, C. G., Pilipenko, V., & Bucheit, L. A. (2020). The gendered pay gap in genetic counseling. Journal of genetic counseling, 29(2), 182–191. https://doi.org/10.1002/jgc4.1236. Stay tuned for the next new episode of DNA Today on August 18th, 2023 for our 250th episode fe

In this episode we are learning about Ornithine transcarbamylase (OTC) deficiency, an X-linked genetic disorder that prevents the breakdown and excretion of ammonia. When ammonia builds up in the body, it can rise to toxic levels where it affects the central nervous system. This allows ammonia to accumulate in the bloodstream, rising to toxic levels where it affects the central nervous system. OTC is the most common of the urea cycle disorders. We are joined by three OTC experts with professional and lived experience! Dr. Aimée Dudley is a Senior Investigator at the Pacific Northwest Research Institute (PNRI). Her laboratory performs genetic research that is used to aid variant interpretation. Dr. Andrea Gropman is the Principle Investigator of the Urea Cycle Rare Disease Consortium (UCDC) and the Division Chief of Neurodevelopmental Pediatrics and Neurogenetics at Children’s National Hospital. Tresa Warner provides her personal experience and shares her insight as the mother of a child with OTC deficiency. She also serves as the president of the National Urea Cycle Disorders Foundation. Aimée Dudley, PhD, is a Senior Investigator and the Director of Educational Outreach at PNRI. She earned her BS in biochemistry and molecular biology from the University of Massachusetts at Amherst and her PhD in genetics from Harvard Medical School. Dr. Dudley was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School. In addition to her roles at PNRI, Dr. Dudley is a scientific advisor to FenoLogica Biosciences, a scientific instrumentation company founded based on technology developed in her lab. She serves as an Associate Editor at PLoS Genetics. Dr. Dudley also co-chairs the Washington Research Foundation’s Postdoctoral Fellowship Selection Committee. As PNRI’s Director of Educational Outreach, she partners with community groups to bring high school and undergraduate students from underrepresented communities to PNRI to explore science as a career. She also mentors graduate students through her affiliate appointment in the University of Washington’s Department of Genome Sciences, and as a faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program. Andrea Gropman, M.D., FAAP, FACMG, FANA, is Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital and a Professor of Pediatrics, Neurology, Genomics and Personalized Medicine at George Washington University. Dr. Gropman is the Principal Investigator of the Urea Cycle Disorders Consortium (UCDC) and serves leadership roles on the Rare Disease Clinical Research Network and in genetic, metabolic and neurology societies. She has published over 200 articles and reviews and contributed chapters to classic textbooks in genetics and neurology. Dr. Gropman is one of the associate editors of the classic textbook, Swaiman’s Pediatric Neurology and co-author of the textbook, X & Y Chromosomal Variations. She received her M.D. from the University of Massachusetts School of Medicine, completed a residency in Pediatrics at Johns Hopkins Hospital in Baltimore, MD and subsequent fellowships in neurology/child neurology at George Washington University and Children’s National, Washington, D.C., clinical and biochemical genetics at the National Institutes of Health, and a mini fellowship in neuroimaging and magnetic resonance spectroscopy at the Huntington Medical Research Institute in Pasadena, CA. She is board certified in neurology/child neurology, genetics, biochemical genetics and neurodevelopmental disabilities. Tresa Warner is a parent of a child living with OTC and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, a non-profit organization dedicated to the identification, treatment, and cure of urea cycle disorders. The foundation was formed in 1988 by a handful of parents whose children were affected by urea cycle disorders and has since become a nationally recognized resource of information and education for families and healthcare professionals. On This Episode We Discuss: Urea Cycle disorders, commonalities and symptoms OTC deficiency overview Diagnosis and treatment of OTC deficiency OTC deficiency and newborn screening panels Variants of uncertain significance in the OTC gene New potential treatments and cures of OTC deficiency Challenges faced by people with OTC deficiency and their families and actions that people with OTC deficiency and their families can do to cope with the challenges of the disease The role of the Urea Cycle Rare Disease Consortium in research and the National Urea Cycle Disorders Foundation in supporting people and families with OTC deficiency Links we mention in the episode: Article: The functional impact of 1,570 individual amino acid substitutions in human OTC Press release: Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metaboli

In lieu of this episode, I want to provide you with other DNA Today episodes about DMD. In Episode #156 I interview Rich Horgan. He opens up about his brother’s experience living with DMD and how it inspired him to start Cure Rare Diseases, which is an organization that focuses on developing personalized treatments for rare diseases. In Episode #202 I interview two experts about DMD. Genetic counselor Ann Martin who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from Revvity (formerly PerkinElmer Genomics). In this episode we focus on the genetics of DMD and the treatments. Both episodes are linked for you in the show notes. Enjoy!

PART TWO, stream episode #245 before this episode! Some of our most popular episodes over the years of DNA Today are those that provide insight into the genetic counseling graduate program application process. So much has changed since we recorded those episodes back in 2018-2022 (many programs have removed the GRE requirement, interviews are virtual, etc.) these episodes include #87 #97 #101 #193 and #194. That’s why we are revisiting these topics. We are joined by two newly matched genetic counseling students who are starting their graduate programs this fall, Maya Patel and Corinne Merlino! Last week we shared Part 1 of this episode where we discussed mentorship, obtaining letters of recommendation, taking gap years, and more! Definitely check it out before you listen to this episode! Maya Patel will be a student in Thomas Jefferson University’s program. She earned her degree in diagnostic genetics at The University of Connecticut (which is how we connected, I graduated from the same program 6 years ago). Maya is a first-time applicant and is going right from undergrad into her GC program, so she has lots of insight to offer about navigating the application process during a busy senior year. Corinne Merlino’s name is probably familiar to you as she is our Communications Lead! Corinne writes the blog posts for each episode and leads our social media team. Corinne is also a Clinical Research Coordinator at The Palliative and Advanced Illness Research (PAIR) Center at The University of Pennsylvania where she has worked for 3 years. She is continuing her career at Penn by joining their genetic counseling class this fall! Corinne was a second-time applicant this cycle and after not matching and taking multiple gap years, she can speak to how to spend that time in an intentional and meaningful way. Congratulations to both of our guests on matching, this is especially exciting for our host, Kira Dineen, who had the privilege of mentoring both Maya and Corinne through their application process! Become a mentee of Kira’s here. Special shoutout to our listeners who submitted questions for our guests to answer, Mahfuz, Grace, Anna, Elizabeth, Crystal, Sophie, Kelci, Riley, Christina, and Aciana. In the second part of our conversation we discussed…. Crafting a great personal statement Networking Applying multiple times Tips for taking care of yourself Helpful advice our guests were given and advice they’d like to share with future applicants During the show, Corinne and Maya talked a lot about how mentorship was a vital tool during their application cycle. One of their mentors was (and continues to be) our host Kira Dineen. If you would like to have this mentorship, join our Patreon here! Keep up with our guests during their grad school journeys by following Corinne on Twitter and LinkedIn and Maya on LinkedIn. Both Corinne and Maya would be happy to answer additional questions about their application processes, just send them a DM! You can also check out this αrticle where Maya talks about her experience as a student in the Diagnostic Genetics Program at UConn, and stay tuned this Fall when we’ll be sharing Corinne’s interview on the It Happened To Me Podcast! Stay tuned for the next new episode of DNA Today on July 28th, 2023 where we’ll be joined by Dr. Susan Apkon & Melissa Gibbons for a conversation about Duchenne Muscular Dystrophy! New episodes are released every Friday. In the meantime, you can binge over 245 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].