DNA Today: A Genetics Podcast

We're excited to release our second installment in our new Mock Genetic Counseling Session series! In this installment, our host Genetic Counselor Kira Dineen and student Annette Grynspan perform a mock prenatal genetic counseling session. This prenatal session’s indication is one of the most common: advanced maternal age (AMA).    This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   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 10 podcasts most notably DNA Today, Journal of Genetic Counseling's DNA Dialogues, N-Lorem's Patient Empowerment Program, Phenotips Speaker Series: A Genetic Podcast, It Happened To Me: A Rare Disease and Medical Challenges Podcast and others.    For the past 4.5 years she has also served as the prenatal genetic counselor at a high risk pregnancy private practice in Connecticut for over four years. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College.   Dr. Annette Grynspan (she/her) is an international medical graduate from Costa Rica with 14 years of experience in clinical care, research, and healthcare administration. She earned her Bachelor of Science in Neuroscience from the University of Michigan, Ann Arbor, and her Doctor of Medicine from the Universidad Autónoma de Guadalajara. Currently, she is a second-year student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. Fully bilingual in English and Spanish, Dr. Grynspan excels at communicating complex medical concepts and building relationships within diverse communities.    Passionate about genetics, Dr. Grynspan focuses on personalized medicine and public health initiatives. Her upbringing in Costa Rica has fueled her commitment to health equity and empowering individuals with genetic knowledge for informed decision-making. With strong analytical skills and a detail-oriented approach, she aims to advance patient outcomes and advocate for underserved populations making a meaningful impact in the field of genetic counseling. The premise of this mock case was Dr. Grynspan’s work as part of her internship with DNA Today.    Mock Prenatal Genetic Counseling Session Outline Contracting Greetings and introductions. Overview of the session: pregnancy history, symptoms, family history, genetic screening options, ultrasound preview, and addressing questions. Burning Questions Concerns about age-related risks for chromosomal conditions.Explanation of egg retrieval age vs. delivery age for risk assessment. Pregnancy Information Confirm due date, conception method, LMP and/or transfer date, etc.Pregnancy symptoms, exposures, and medical history review. Family History Maternal/paternal conditions and relatives' health details. Screening Options NIPS: Non-invasive blood screening to detect chromosomal conditions.CVS/Amnio: Diagnostic procedures, risks, timing, and testing options.  NT Ultrasound Schedule around 13 weeks to measure the nuchal translucency (NT) and presence or absence of the nasal bone for indicators of chromosomal conditions. Session Wrap-Up Review next steps: NIPS consent, blood draw, and future appointments.Results will be provided in person at the next ultrasound.Invitation for partner involvement if desired.   Stay tuned for the continuation of our mock genetic counseling session series! In 2025 we will bring you more mock sessions inspired by a cumulation of cases.    Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com.    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 300 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 Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

Discover how Connect My Variant, a groundbreaking nonprofit, is revolutionizing the way families share crucial genetic information. Dr. Brian Shirts and Katy Meta reveal how their organization bridges the gap between genetic testing and family communication, potentially saving lives through early detection and prevention.   Brian Shirts, M.D. is ConnectMyVariant’s President, Associate Professor of Laboratory Medicine and Pathology, and Director of the Institute for Public Health Genetics at the University of Washington. His professional goal is to help prevent all hereditary cancer. In his clinical role, he supports a large range of clinical genetic testing from cell-free testing for prenatal screening to exome testing to hereditary cancer testing. Dr. Shirts earned his M.D. and Ph.D. at the University of Pittsburgh. He is board certified in both Clinical Pathology and Molecular Genetic Pathology. His clinical and research interests include improving strategies for detection and classification of rare mutations, clinical classification of rare genetic variants of uncertain significance, particularly variants in familial cancer genes; improving the use of complex and multifactorial clinical information, with special interest in personalized healthcare using genetic information and research on the storage and communication of genetic information in the healthcare setting.   Kathryn (Katy) Meta volunteers as a Family Outreach Navigator at ConnectMyVariant. Katy has volunteered with a long list of organizations including the Cystic Fibrosis Foundation, the National Eating Disorders Association (NEDA), ArtStream, CureMSD and others. She was interviewed on NPR’s Morning Edition about the importance of human connection on the NEDA Helpline, as well as the consequences of their decision to replace Helpline volunteers with an AI chatbot. She is in her Senior year at Dickson College earning her BS in Biology and minor in Psychology with a Health Studies certificate. She is interested in furthering her education with a Master's degree in Genetic Counseling.    Key Highlights: - Cascade genetic testing enables families to proactively manage hereditary conditions - Trained navigators help individuals share sensitive genetic information with relatives - Connecting people with the same genetic variants creates supportive communities - Focus on cardiogenetics demonstrates the life-saving potential of early awareness - Family Outreach Navigators provide crucial follow-up support   We spotlight the emotional and practical benefits of genetic information sharing, from preventing inherited diseases to fostering understanding among family members. Whether you're curious about genetic testing or looking to better understand your family's health history, this conversation offers invaluable insights into the future of personalized medicine.   During the interview the resource FindAGeneticCounselor.com was recommended, and excitingly it is newly available in Spanish.    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

We explore a remarkable story of genetics, family history, and groundbreaking research with Dr. Susan Liebman and Dr. Elizabeth McNally. Together, they’ve identified a genetic mutation with life-saving implications for families affected by inherited heart conditions, like Dr. Liebman’s own.   Meet Our Guests: Dr. Susan Liebman is a trailblazing molecular geneticist who uses yeast as a model organism to study prions and human protein misfolding diseases such as ALS and Alzheimer’s. Her research also extends to the prion form of the cancer gene p53. With over 100 publications in leading journals, including Nature, Science, and Cell, and more than $13 million in research funding, her contributions to the field are substantial. Susan began her scientific journey as one of MIT’s early female undergraduates (B.S. 1968) and went on to earn advanced degrees from Harvard (M.S. 1969) and the University of Rochester (Ph.D. 1974) medical schools. In addition to her research, she taught genetics to undergraduate and graduate students for more than 35 years.   Dr. Elizabeth McNally directs the Center for Genetic Medicine at Northwestern University’s Feinberg School of Medicine in Chicago and is the Elizabeth J. Ward Professor of Genetic Medicine. She is a practicing cardiologist with expertise in cardiovascular genetics. As a clinician, she developed practices for integrating genetic information into cardiovascular care. She has a special interest in neuromuscular diseases like muscular dystrophy and their accompanying cardiovascular complications.   Episode Highlights: - Family Medical History: Dr. Liebman shares the powerful backstory behind “The Dressmaker’s Mirror” and how a century-old family secret shaped her journey in genetic research and advocacy. - Discovering the FLNC Mutation: Dr. McNally discusses the process of uncovering this mutation in Dr. Liebman’s family, highlighting the challenges and breakthroughs in genetic testing and the importance of tracking family medical history. - Genetic Screening and Personalized Medicine: The guests examine the future of genetic testing, including the ethical complexities and benefits of population screening for high-risk groups, like Ashkenazi Jews, who have a higher frequency of the FLNC mutation. - Preventive Care in Cardiology: Dr. McNally shares insights on integrating genetic data into cardiology, from identifying cardiomyopathy risks to offering personalized care for patients. - Barriers to Genetic Testing: They address why only a small percentage of cardiomyopathy cases are referred for genetic testing and discuss ways to increase access and education around genetic testing’s role in heart health. - The Future of Gene Therapy: Hear Dr. McNally’s outlook on gene therapy advancements for actionable genes, including the latest on FLNC’s addition to the ACMG list of actionable genes.   Enter Book Giveaway! You can win a free copy of “The Dressmaker’s Mirror”! Head over to DNA Today’s social media to enter the giveaway. You can also enter the Goodreads giveaway for additional opportunities. Can’t wait to see if you won? Buy a copy of the book through the publisher (with code RLFANDF30) or on Amazon.    More Info You can learn more about the author Dr. Susan Liebman, on her website here. If you are interested in booking her as a speaker check out her Media Kit here, you can reach out to our host Kira Dineen (info@DNAtoday.com) as she is also her Book Launch Agent!    Keep up with Dr. Elizabeth McNally on X @EMMcNally.  References Golbus JR, Puckelwartz MJ, Dellefave-Castillo L, Fahrenbach JP, Nelakuditi V, Pesce LL, Pytel P, McNally EM. Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. Circ Cardiovasc Genet. 2014 Dec;7(6):751-759. doi: 10.1161/CIRCGENETICS.113.000578. Epub 2014 Sep 1. PMID: 25179549; PMCID: PMC4270910.    Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370; PMCID: PMC9366660.   DNA Today Episode #175 Hereditary Cancer Variant Network with Brian Shirts. And our next episode will be featuring Connect My Variant’s founder Dr. Brian Shirts again!    DNA Today Episode #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1   DNA Today Episode #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2   SecuriGene - a company that will bank your DNA.    Jackson Laboratories and Northwestern Medicine’s Course “Implementing Cardiogenomics in Clinical Practice”    American Heart Association    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  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 info@DNAtoday.com.

We’re back from the American Society of Human Genetics (ASHG) 2024 Annual Meeting in beautiful Denver, Colorado! This episode recaps the highlights, discussions, and discoveries from five packed days of cutting-edge genetics and genomics science. Every year, ASHG brings together researchers, clinicians, students, and industry leaders to share advancements, and this year was no exception.   In this recap, our Kira Dineen reflects on the vibrant atmosphere at ASHG and shares conversations with conference attendees, each offering unique perspectives on the sessions and workshops they found most impactful. We had the chance to connect with some familiar faces, including previous podcast guests and sponsors, as well as meet new colleagues who shared inspiring insights into the future of genetics.   You might notice some background chatter—it captures the energy and dynamism of ASHG’s bustling exhibit hall and session rooms! Presentations Recapped “Mendel’s Peas as Exemplar or Exception” by Dr. Gregory Radick  “Sickle Cell Disease: A Journey Through the Complexitites of Genetics” by Dr. Athena Starland-Davenport  Resources Disputed Inheritance: The Battle over Mendel and the Future of Biology By Dr. Gregory Radick “The Genetics Podcast” By Sano Genetics (Hear Kira’s most recent appearance on Ep 134) Science Geek Games’ Variation – A DNA Matching Card Game NIH Small Business Funding/Grants Episode Referrenced #157 NSGC 2021 Recap #191 Overturning Roe v. Wade with Laura Hercher #284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #305 Transformative Therapies for Sickle Cell Disease with “Through The Genes” #307 NSGC 2024 Recap Fact Check Kira estimated that Mendel was studying genetics through peas in the 1800s, and she was right. For eight years, starting in 1857, Medel studied the peas he grew in the garden of his monastery. 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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

Dr. Joanne Donovan, Chief Medical Officer at Edgewise Therapeutics, join the show to discuss Becker Muscular Dystrophy (Becker) and emerging treatments.   We dive into Dr. Donovan’s role at Edgewise and the company’s research into treatments for Becker and Duchenne Muscular Dystrophy. At the forefront of this research is sevasemten, an investigational fast myosin inhibitor designed to combat contraction-induced muscle injury, which plays a significant role in muscle deterioration for those living with Becker.    Please note that sevasemten is an investigational agent that is not approved for use by any regulatory authority in any territory. All information shared in this podcast episode is intended for healthcare providers only. This episode is for informational purposes only and should not be considered professional medical advice. Always consult your doctor or qualified medical professional for any questions that you may have regarding a medical condition, procedure, treatment or trial.   Joanne M. Donovan, M.D., Ph.D., has served as Chief Medical Officer at Edgewise Therapeutics since 2021. Most recently, Dr. Donovan served as Chief Medical Officer and Senior Vice President, Clinical Development at Catabasis Pharmaceuticals. Since 1989, she has been a staff physician at the VA Boston Healthcare System, where she was formerly Chief of Gastroenterology. Dr. Donovan has held an appointment at Harvard Medical School since 1990, most recently as associate clinical professor of medicine. From 1998 to 2011, Dr. Donovan served in positions of increasing responsibility, ultimately as vice president of clinical development, at Genzyme, a biotechnology company, which she joined through its acquisition of GelTex Pharmaceuticals. Dr. Donovan holds a Ph.D. in medical engineering and medical physics from the Massachusetts Institute of Technology, an M.D. from Harvard Medical School and an S.B. from the Massachusetts Institute of Technology. She completed residency training in internal medicine and a fellowship in gastroenterology at the Brigham and Women's Hospital.' Key Discussion Points:   Becker Muscular Dystrophy Overview: Becker is a genetic, progressive disease that leads to muscle degeneration and weakness. Symptom onset varies and can be debilitating, with patients losing muscle function over time.The Science Behind Becker: Muscle breakdown in Becker is driven by dysfunctional dystrophin, a protein that supports muscle fibers during contraction. Without proper dystrophin function, repeated contraction-induced injury leads to muscle fiber loss and replacement by fibrosis and fat.Edgewise Therapeutics’ Research: The investigational therapy sevasemten has shown promising results in recent trials, including stabilization of functional assessments and reductions in muscle damage biomarkers. Dr. Donovan shares how Edgewise is progressing to the pivotal Phase 2 GRAND CANYON study, which is now enrolling ambulatory adults with Becker.   If you are a healthcare provider with patients who may benefit from this research, you can refer them to the study through the information below.    1) Contact our Edgewise team by email at studies@edgewisetx.com. 2) Have your patient go to beckergcstudy.com, where they can contact someone from patient support. 3) Or submit your contact information via beckergcstudy.com/hcp and someone will reach out to you.   More DNA Today Episodes on Muscular Dystrophies: #156 Rich Horgan on Duchenne Muscular Dystrophy (DMD) #202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde    Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

We are learning about an exciting, newer career in the genomics field: genome health analyst. This role is rapidly gaining importance as the demand for interpreting personal genomic data continues to grow, and healthcare systems need more professionals trained to make this data clinically actionable.    Joining us are Dr. Claire Davis and Anna Cantor, Co-Directors of the new Master's of Science in Genome Health Analysis program, which is a collaboration between NYU Grossman School of Medicine and Sarah Lawrence College.    Claire Davis has worked with the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College for nine years in various capacities. She is now Director of Curriculum for the genetic counseling program and the Institute for Genomics, as well as co-director of the Genome Health Analysis master's program created in collaboration with NYU Langone's School of Medicine. Claire previously worked as a cancer counselor and assistant director of the genetic counseling training program at Mount Sinai. She earned her doctorate in adult education and leadership from Teachers College, Columbia University, completing a dissertation on the professional learning of genetic counselors. She continues to volunteer for initiatives related to genetic counselors' learning and development.   Anna Cantor is the Program Director of Genetics Education at the Center for Human Genetics and Genomics at NYU Grossman School of Medicine and co-director of the Genome Health Analysis Master’s program.. She is a board-certified genetic counselor with clinical experience in cancer and autoinflammatory genetics. . Throughout her career, Anna has trained genetic counseling students and  is now creating  education initiatives for graduate and medical students, as well as  healthcare professionals that aim to increase access to accurate genetics information throughout NYU Langone Health. Anna received her MS in Human Genetics from Sarah Lawrence College and her MA in Behavioral Neuroscience from the University of British Columbia in Vancouver, Canada. She completed her BA Hons in Psychology from Concordia University in Montreal, Canada.   In This Episode, We Discuss: What motivated the creation of the MS in Genome Health Analysis programCareer opportunities for graduates in healthcare and genomicsThe integration of bioinformatics, data science, and patient care in the role of a genome health analystHow the collaboration between NYU and Sarah Lawrence College shapes the curriculumKey courses that prepare students for real-world applicationsHandling and interpreting vast amounts of genomic dataThe significance of emerging ‘omics technologies and genome variant interpretationApplication tips for prospective students, including types of experiences to prepare them Going to be at ASHG 2024? Come find Anna Cantor on November 7th with her poster from 2:30-4:30pmMT! Our host Kira Dineen will also be at the conference. So be sure to say hi if you see her. And she is recording sound bites on what you learned at the conference.   You can learn more about the Master's of Science in Genome Health Analysis program here. You can contact Anna Cantor directly at Anna.Cantor@NYULangone.org and Dr. Claire Davis at CDavis@SarahLawrence.edu.    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

We're excited to announce the launch of our new Mock Genetic Counseling Session series! In our first installment, genetic counselor Catherine Mayo and student Ariel Modeste perform a mock cancer genetic counseling session, offering insight into how genetic testing for cancer risks is discussed with patients. This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   Catherine Mayo (she/her), is a Genomic Science Liaison at a genetic testing company. 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.    Check out Catherine’s two other appearances on DNA Today. In Episode #110 we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. Catherine more recently shared insight in Episode #259, which was a recap and reflection on the 2023 National Society of Genetic Counselors’ (NSGC) Annual Conference.    Ariel Modeste (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ariel is a graduate of LaGrange College with a B.S. in Biology and a double minor in psychological science and chemistry. The premise of this mock case was Ariel’s work as part of her internship with DNA Today.    Specialty: Cancer   Indication: A 26-year-old unaffected female is seen due to a family history of cancer.   Patient Name: Estelle Woods   Outline: Contracting  Introduction to each otherWhy were they referred to genetic counseling?Explain what the session will entailAsk if patient has any questions Medical IntakeFamily History  Take a pedigree Patient Education The purpose of all the questions that were askedGenetics overviewHereditary cancer risk factors and signs Risk Assessment  Review the patient’s pedigree and explain what is suspicious and what isn’t and why. What you would test for in the patientWho the best person in the family is to be tested  Decision Making Explain genetic testingExplain the 3 possible resultsExplain what each result would mean for the individual and their family membersAsk patient if they would like to pursue the genetic testing Insurance and cost  NCCN criteriaPotential insurance coverageCash option without insuranceGINA Consenting Signing consent forms Results Turn around timeHow results are provided Recap information and final questions   Stay tuned for the continuation of our mock genetic counseling session series! Over the next year we will be bringing you more mock sessions inspired by a cumulation of cases.  Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. The next new episode of DNA Today will drop on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  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 info@DNAtoday.com.

We explore the powerful work of Father Founded, an organization dedicated to reuniting Amerasian families separated by war. It shares the heartwarming story of Scott McMullen, a retired firefighter and veteran, who discovered his long-lost daughter through the group's efforts. Marny Klump, a dedicated volunteer, uses her skills in genetic genealogy to help Amerasians locate their biological fathers across continents.   I do want to offer a warning that our conversation includes sensitive topics like young adult death, sexual assault, and childhood abuse. These topics may not be suitable for children or people who have had these experiences themselves.    Scott's journey involves fathering a son in the Philippines, marrying the mother to bring him to the U.S., and later learning he had another child in the Philippines and connecting with his daughter Sherlyn, who was adopted and raised in another country. Despite challenges, Scott and Sherilyn have formed a close bond, united by their shared Amerasian experience. Scott Mcmullen is a father of 6, who retired in 2020 after 40 years as a Firefighter/EMT. He served 26 years in The Air Force Reserves as a Firefighter. He was elected to and served eight years on the Mount Vernon Washington city Council. He then recruited and helped the first three Hispanic people get elected to the Mount Vernon, Washington City Council. I thought it was unfair to have no Hispanic representation when his city’s population was 36% Hispanic. He and his brother flew to the Philippines to meet his biological daughter and her family. He lives part time in Angeles city, Philippines and was honored to have attended his grandchild's wedding!   Marny Klump, a Father Founded volunteer, shares how she became involved in reuniting families through genealogy and DNA testing, driven by the belief that everyone has the right to know their origins. The discussion emphasizes the importance of accessing biological family history and the challenges faced in the process. Marny was born in Toronto, Canada and moved to the United States when she was 16. She and her family currently live outside of Richmond, Virginia. Marny started doing her husband’s family tree in 2014. In early 2016, she started working with a group to help people put the pieces of their puzzles together. In August 2016, she learned how to use DNA to help those with misattributed parentage locate their biological family members. In April 2020, one of those cases led her to Father Founded, where she has been volunteering to help Amerasians with their quest to know their birth fathers.   You can learn more about Father Founded on their website here and donate here.   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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

Two-time Emmy-winning celebrity chef Sandra Lee joins the show. Known for her innovative “Semi-Homemade” cooking style that revolutionized how millions approach the kitchen, Sandra is not just a culinary icon but also a dedicated advocate for health and wellness.    In honor or breast cancer awareness month, we chat about her courage and openness in sharing her personal battle with breast cancer, most notably through her raw and impactful HBO documentary “RX: Early Detection – A Cancer Journey with Sandra Lee,” have made her a powerful voice in the fight for early detection and cancer awareness.    As if that wasn’t enough, Sandra is the creator and co-host of the new hit Netflix show, “Blue Ribbon Baking Championship”. The show has already cracked a “Top 10” list on Netflix.    In this conversation, we’re diving into Sandra’s incredible journey—from her rise to fame as a beloved television personality to her deeply personal fight against cancer and her ongoing efforts to champion health causes.    A note on the audio quality: As Sandra Lee mentions during the show, she was on vacation when we recorded this and her only option was to call in for the interview. So we did our best to improve her audio file, but it’s not our typical sound.    During the episode we couldn’t recall the name of the dog show on Thanksgiving, it’s The National Dog Show.    We also mentioned Sandra Lee’s first podcast appearance was on this episode of The Kim Gravel Show.    And Sandra Lee was close, it was a 7 year old who won a blue ribbon at a county fair this summer, here’s the story.    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

After discovering she’s a carrier for Congenital Myasthenic Syndromes, host Kira Dineen sought out to learn more. She met a leading expert in CMS, Dr. Hanns Lochmüller.    Dr. Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare diseases. He is a Senior Scientist at CHEO Research Institute. He is also a Professor of Neurology at the University of Ottawa Faculty of Medicine and The Ottawa Hospital Department of Medicine.    CMS is a group of rare inherited neuromuscular conditions caused by defects at the neuromuscular junction. While CMS shares similarities with Myasthenia Gravis (MG), it has distinct genetic causes and onset patterns that make diagnosis and treatment challenging. Dr. Lochmüller walks us through the evolution of CMS research, highlighting the advances made possible by new sequencing technologies. Thirty years ago, only two genes were known to cause CMS; now, there are 35 identified genetic causes. This episode offers a comprehensive look at CMS symptoms, diagnostic approaches, and treatment strategies, as well as the important role genetic testing plays in accurately diagnosing and managing CMS. Topics Covered in This Episode: Dr. Lochmüller’s Background and Expertise: How his work in CMS has evolved over the past 30 years.Key Differences Between CMS and Myasthenia Gravis (MG): The autoimmune vs. genetic origins, age of onset, and differences in symptoms between the two conditions.Genetic Testing for CMS: How advancements in genetic testing have transformed the diagnosis of CMS and allowed clinicians to better differentiate it from other neuromuscular disorders.Challenges in Diagnosing CMS: Why some patients are misdiagnosed with muscular dystrophies or unspecific myopathies, and how larger neuromuscular panels and exome sequencing are improving diagnosis.Common Symptoms of CMS: Ptosis, muscle weakness, and fatigue are key indicators, often seen in the absence of muscle degeneration.Treatment Approaches for CMS: How treatment depends on the genetic mutation, with drugs like Mestinon benefiting some patients but worsening symptoms in others, such as those with DOK7-related CMS.The Role of Repetitive Nerve Stimulation Tests: How this diagnostic tool helps identify neuromuscular transmission defects.Importance of Genetic Diagnosis: How a full genetic diagnosis can provide clarity for patients and improve quality of life by guiding targeted treatment options.Treatabolome Database: A resource that links specific genetic mutations to the most effective treatments for CMS. Dr. Lochmüller also shares insights into the variability of CMS symptoms and the resilience of patients living with the condition. He highlights the importance of a genetic diagnosis, as it often brings relief and provides a roadmap for effective management of the disease. Learn more about ongoing research in CMS  here and specifically for the CMS Natural History Study here.  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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

We’re recapping and reflecting on the 43rd National Society of Genetic Counselors (NSGC) Annual Conference that took place in vibrant New Orleans. As always, the sense of community was incredible, and this year was no exception.    I had the privilege of reconnecting with past guests, sponsors of the show, classmates, and meeting new people. It’s always surreal to meet so many listeners in person—thank you for all your kind words and support! Producing a weekly episode since 2022 has been a labor of love, and this conference gave me the extra boost of motivation to keep going strong.   In this recap episode, I had the chance to chat with attendees about their favorite moments from the conference. All these mini interviews were with genetic counseling students who shared what they learned at the conference. Students were from three programs: University of Pittsburgh, Baylor College of Medicine, and Sarah Lawrence College.    We also took a deeper dive into one of the standout sessions, “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” which was moderated by Courtney Studwell, MS, CGC. I caught up with another friend, Jovanni Cuevas, MS, CGC, to debrief on what we learned from the session.    All these interviews were recorded in person at the conference, so you might hear a little background noise, but it adds to the ambiance of the lively event! Sessions References During The Episode: - “NSGC 2024 State of the Society Address”  - Breakfast with Biomarin “A Deeper Look Into Achondroplasia” - “Just Because We Can, Should We? Examining PGT Through the Lens of Ableism, Access, and Clinical Actionability” - Professional Issues Panel “Genetic Counseling around the Globe” Insights, Lessons, and Collaboration for a Future-Proof Profession” - “Take it at Faith Value: A Look at the Needs of Genetic Counseling in the Hindu, Pakistani Muslim, Church of Jesus Christ of Latter-day Saints (Mormon), and Orthodox Jewish Communities”  - “Beverly Rollnick Memorial Lecture: Ordering “The Cure” with a Side of Trepidation: The Challenges of Gene Therapy for Sickle Gene Disease” DNA Today Podcast Episodes Mentioned: #110 Gattaca, 22 Years Later #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #301 Dwarfism with Colleen Gioffreda #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #305 Transformative Therapies for Sickle Cell Disease with “Through The Genes” #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19   Curious about other NSGC conferences? We have recapped the last six years of conferences including 2019, 2020, 2021, 2022, and 2023.  Other References During The Episode: - Little People of America (LPA) - Metabolic NSGC Special Interest Group (SIG) - DNA Dialogues, Journal of Genetic Counseling’s Podcast - The Road to Wisdom By Dr. Francis Collins    It was such a meaningful experience to be part of the NSGC 43rd Annual Conference. Whether you joined us in New Orleans or attended virtually, I hope you found the sessions, panels, and networking just as inspiring as we did.   Don't forget to mark your calendars! The 44th NSGC Annual Conference is happening next year in Seattle, WA from November 7-10, 2025. We are already excited to drink lots of Seattle coffee with fellow genetic counselors.    Are you going to the American Society of Human Genetics (ASHG) Annual Conference in Denver, CO in November? Keep your eye out for our host Kira Dineen, who will mostly be in the exhibit hall. Just like this episode, she would be excited to record with you about what you learned at the conference. She also might give you DNA Today merch!   Stay tuned for the next new episode of DNA Today on Friday! New episodes are released every Friday. In the meantime, you can binge over 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  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 info@DNAtoday.com.

In this special episode of DNA Today, we are honored to be joined by one of the most influential figures in modern science, Dr. Francis Collins.    Dr. Collins served as the Director of the National Institutes of Health (NIH) during one of the most critical periods in modern history, including the height of the COVID-19 pandemic. He is also renowned for leading the monumental Human Genome Project, a landmark achievement that revolutionized genetics. Dr. Collins's groundbreaking work includes the discovery of the CFTR gene, which has been crucial in advancing treatments for cystic fibrosis. He is the author of several books, including his brand new book, The Road to Wisdom. Don't forget to enter our giveaway for a copy, links further down.  In this episode, we dive into this new book, which releases on September 17th, 2024. We discuss the insights he has gained throughout his remarkable career, the challenges of bridging science and spirituality, and his reflections on moments of triumph and failure. Dr. Collins also shares personal stories, including his discovery of faith, the difficulties faced during the Human Genome Project, and the challenges of transitioning between political administrations as NIH Director. Key topics discussed include: Dr. Collins's experience discovering the CFTR gene and its impact on cystic fibrosis researchThe most critical moments of the Human Genome Project and how it reshaped our understanding of geneticsReflections on his tenure as NIH Director, serving under three U.S. presidentsHis response to the COVID-19 pandemic and lessons learned for future public health crisesThe role of trust between scientists and the public, and how we can combat misinformationHis thoughts on the intersection of faith and science, and how his beliefs have shaped his careerA special call to action from Dr. Collins’s book: a pledge to reduce animosity, be generous in spirit, and commit to sharing objective truths Stay tuned until the end for details on our exciting giveaway! We’re offering listeners the chance to win copies of Dr. Collins’s new book, The Road to Wisdom. Links Mentioned in the Episode: Enter our giveaway for a chance to win The Road to Wisdom on Instagram, LinkedIn and Twitter/X. Sign Dr. Collins's Pledge hosted on Braver Angels for a kinder, more understanding world Check out the organization Dr. Collins’ mentioned: Biologos    Our episode next week will be a tad delayed; it will be a recap of the National Society of Genetic Counselors Annual Conference, which doesn’t wrap up until Saturday, September 21st. But don’t worry we are quick with edits and will have the episode to you after the conference ends.  In the meantime, you can binge over 300 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 Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  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 info@DNAtoday.com.

On Episodes #288 and #289 of DNA Today, I spoke with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease (SCD) symptoms. Since then, I’ve met two amazing patient advocates—Wunmi Bakare and Dima Hendricks—who also have Sickle Cell Disease. They've expanded my understanding of gene therapy and other emerging treatments for SCD, and perfect timing to kick off Sickle Cell Disease Awareness month this September.  In this episode, Wunmi Bakare and Dima Hendricks share their personal journeys with SCD and delve into their experiences exploring curative therapies. They also discuss their new podcast, Through The Genes, launched on World Sickle Cell Day (June 19th, 2024). Their show offers an insightful look into the risks, benefits, and limitations of gene- and cell-based therapies for Sickle Cell Disease. Topics Covered in This Episode: Wunmi and Dima’s personal experiences living with Sickle Cell Disease and their exploration of curative therapies Available curative therapies for Sickle Cell Disease, including stem cell transplants and gene therapyThe obstacles that prevented Dima from qualifying for gene therapyWunmi’s stem cell transplant experience, including the procedure, recovery process, and symptom changes post-transplantThe use of the term “cure” in the context of gene therapy for Sickle Cell Disease—how it may create misconceptionsThe importance of managing expectations around gene therapy and its long-term effectsHow mental health has played a significant role in their SCD journeys, including the emotional aspects of undergoing transformative therapyThe crucial role of support systems—family, friends, and healthcare providers—during and after treatmentWunmi’s post-stem cell transplant follow-up care and the importance of continuity in care after gene therapyThe harsh reality of medical racism faced by those living with Sickle Cell Disease, and how Wunmi and Dima navigate and advocate within the healthcare systemTheir hopes for the future of Sickle Cell Disease treatment and advice for others considering gene therapy   Our Guests:   Wunmi Bakare is a multicultural citizen and advocacy trailblazer in the sickle cell and rare disease communities. Fueled by purpose and the pursuit of social inclusion, her advocacy efforts focus on erasing the stigma of sickle cell disease through proactive and reactive engagement with the media.   She sits on the curative therapy advisory board for Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, and Healthful Data and is a patient ambassador for Health Union and AllStripes. She was diagnosed with the most severe type of sickle cell disease (HbSS) at 18 months then participated in a clinical trial at the National Heart, Lung and Blood Institute (NIH-NHLBI) where she received an allogeneic stem cell transplant in 2019.   Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a platform that celebrates the lived experience of sickle cell patients globally.   Dima Hendricks, a resilient sickle cell advocate and co-founder of #ThroughThePain Inc., has dedicated over two decades to championing health awareness. Her journey includes conducting health workshops and contributing to various panel discussions. Collaborating with esteemed organizations like the American Red Cross and the American Heart and Stroke Association, Dima has extended her impact in the health community.   In addition to her advocacy, Dima has an impressive history in pageantry. She has earned titles such as Miss Black Dorchester USA, Miss Black Massachusetts USA, Mrs. Massachusetts International, and the 2024 International Mrs New England. Her experience in the pageant world spans over ten years, during which she has taken on roles as a director, coach, and judge. Dima's inspiring story of overcoming obstacles is captured in her book "Unleashing Royalty," where readers can discover her journey to triumph.   During the episode we also mentioned #BoldLipsForSickleCell (Now Bold Plus+).  Wunmi Bakare and Dima Hendricks are passionate patient advocates and hosts of Through The Genes, a podcast dedicated to educating and empowering those affected by Sickle Cell Disease. Both Wunmi and Dima use their personal experiences with SCD to raise awareness and spark change within the medical community, focusing particularly on the potential of gene therapies. Stay tuned for part two of our conversation, where I’ll be a guest on their show, Through The Genes, to continue this important dialogue! You can listen by searching “Through The Genes” in your podcast app or on their website ThroughTheGenes.com and follow the show on Instagram, LinkedIn, and Facebook. You can personally follow Wunmi Bakare and Dima Hendricks as well. Not only is it an audio podcast, but like us, they also produce it as a video podcast and you can watch all episodes here.  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 300 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 info@DNAtoday.com.

Content/Trigger Warning: This conversation includes sensitive topics of sexual abuse, violence, suicide, and homicide. It is not suitable for younger audiences.    We delve into the complex and deeply personal story of the Galvin family, which has played a significant role in the history of schizophrenia research. Our guest, Lindsay Mary Galvin Rauch, is the youngest of twelve siblings in the Galvin family, six of whom were diagnosed with schizophrenia. Their family's genetic material has been a cornerstone of nearly every major genetic study on the disorder since the 1980s, contributing invaluable insights into the genetic underpinnings of schizophrenia.   Lindsay shares her unique perspective growing up in a large family profoundly affected by mental illness, as chronicled in Robert Kolker's award winning book Hidden Valley Road and the HBO 2024 documentary Six Schizophrenic Brothers.    Hidden Valley Road has achieved a long list of accolades…    Instant #1 NEW YORK TIMES best-sellerOfficial selection of OPRAH’S BOOK CLUBA NEW YORK TIMES, WALL STREET JOURNAL, and WASHINGTON POST Top Ten Book of the YearPEOPLE ’s #1 Best Book of the YearNamed a Best Book of the Year by NPR, Time, Slate, Smithsonian, Forbes, Audiophile, Parade, Kirkus, Library Journal, Publisher’s Weekly, the Evening Standard (UK), the Sunday Times (UK), The New York Post, and AmazonFinalist, PEN/John Kenneth Galbraith Award for NonfictionFeatured in PRESIDENT BARACK OBAMA’s list of favorite books of the year   Lindsay's life's journey inspired her evolution from victim and survivor to advocate and thriver. She enjoys sharing her story of the courage to heal and fortitude in adversity. The hope for greater compassion for those affected and their families is her north star. Lindsay is a board member of The Henry Amador Center on Anosognosia and Well Power (formally the Mental Health Center of Denver).   Beyond discussing the scientific impact of her family's contributions, Lindsay opens up about her personal experiences, including the challenges of living with so many siblings diagnosed with schizophrenia, the role of trauma in mental health, and her decision to take on the responsibility of caring for her brothers later in life.   Listeners will gain insights into the following topics: The Galvin family's pivotal role in schizophrenia research and the discovery of a SHANK2 gene mutation linked to the disorder.The varied symptoms of schizophrenia among her brothers and what this diversity reveals about the condition.The impact of trauma on the onset of schizophrenia symptoms, and how this played out in her family.The challenges and responsibilities of managing care for siblings with schizophrenia, including the effects of medications, electroshock therapy, and the issue of anosognosia (lack of insight into one's illness).The ongoing stigma surrounding schizophrenia and the need for societal change to better support those with mental health disorders.The process of genetic testing for the SHANK2 familial mutation and the decisions made regarding her own children.Lindsay’s reflections on personal resilience, mental health, and her hopes for the future of schizophrenia research.   During the interview we mentioned a couple content/resources to check out including… “The Immortal Life of Henrietta Lacks” by Rebecca Skloot (Check out Episode #34 of DNA Today where descendents of Henrietta Lacks were interviewed) “The Collected Schizophrenias: Essays” by Esmé Weijun WangSpotlight Documentary Directed by Tom McCarthyNational Alliance on Mental Illness (NAMI)Patrick J. Kennedy’s Books, “Profiles in Mental Health Courage” and “A Common Struggle”LEAP Institute    Also during the episode Kira and Lindsay Mary weren’t confident about the name of the therapy that Peter was receiving. They should have been, as they got it right, electroconvulsive therapy (ECT).    Lindsay has been launched onto the international stage due to her family's story. She has spoken for the Psych Congress, The NEI Conference, and many other prestigious programs. Speaker Inquiries are accepted at lindsaymarygalvinracuh.com. and donations to assist with her brother's care can be made at GalvinFamilyTrust.org.    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

We have wanted to explore the role of RNA analysis in genetic testing for a long time on DNA Today, but waited until we could get THE leader in the space, Ambry Genetics. The Vice President of Research and Development and head of their Translational Genomics lab, Dr. Rachid Karam, was kind enough to come on to have this long awaited conversation.   We'll discuss Ambry Genetics' history of innovation in RNA testing, how it has increased diagnostic yield and reduced Variants of Uncertain Significance in hereditary cancer testing, and its role in closing health disparity gaps. We'll also introduce ExomeReveal, Ambry’s new exome testing product that includes RNA analysis, extending our expertise to rare diseases.   Dr. Rachid Karam obtained his M.D. in 2003 at UFCSPA in Brazil, and his Ph.D. in Oncogenetics in 2008 at the University of Porto, Portugal. During his Ph.D. he studied the role of the tumor suppressor gene CDH1 in cancer predisposition. He did his postdoctoral fellowship at the University of California San Diego (UCSD) from 2009 to 2014 where he studied the role of the NMD mRNA surveillance pathway in cancer. He joined Ambry Genetics in 2014 and is now Ambry’s Vice President of Research & Development. His work focuses on strategies to improve the positive yield of clinical genetic testing, including the clinical implementation of new technologies such as RNA-seq and Long-Read sequencing. He also actively participates in several ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing results, such as the BRCA1 and BRCA2 Variant Curation Expert Panel (VCEP) and is currently the co-chair of the ClinGen CDH1 VCEP.   Discussion Topics: Ambry Genetics' Leadership in RNA Analysis:The journey of Ambry Genetics in becoming a pioneer in RNA testing.Initial challenges and breakthroughs in RNA analysis. Mechanics and Benefits of RNA Testing:How RNA testing works and its role in accurately classifying genetic variants.The impact of RNA testing on increasing diagnostic yield and reducing VUS in hereditary cancer testing.The process of reclassifying variants from VUS to likely pathogenic or benign using RNA analysis. Concurrent DNA/RNA Analysis:The rationale behind Ambry's preference for concurrent DNA/RNA analysis.Potential future shifts in the necessity of concurrent analysis as RNA evidence accumulates. Addressing Health Disparities:Benefits of RNA testing for non-white patients in hereditary cancer testing. Introducing ExomeReveal:Integration of RNA analysis into Ambry's new exome testing product, ExomeReveal.Importance of RNA analysis for splice site variants identified during exome testing.Comparison of ExomeReveal to standard exome tests in terms of diagnostic yield. Case Studies and Future Directions:Example case demonstrating the clarity and diagnosis provided by RNA analysis.Expectations and anticipated outcomes for extending RNA expertise to rare diseases. Implications for Genetic Counseling and Patient Management:Integration of RNA testing into exome and hereditary cancer testing and its impact on genetic counseling.Evolution of patient management as RNA testing integration improves. During the episode we referenced three other episodes of DNA Today… #95 Kieger Family on Familial Adenomatous Polyposis #297 Exome Reanalysis with Ambry Genetics #299 Genetic Causes of Epilepsy with Dr. Mattison, Dr. Oliveira and Ana Rita Thanks again to Dr. Rachid Karam for helping us uncover the transformative potential of RNA analysis in genetic testing and its far-reaching implications for patient care. 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 300 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 video lead is Amanda Andreoli. 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 info@DNAtoday.com.

As many of our listeners know, our host Kira Dineen is a member of the LGBQTIA+ community and thought this was an important episode to share with listeners. She is also on the DNA Dialogues team and is always excited to share episodes.    In this episode of DNA Dialogues we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”   Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.   In this segment we discuss: Specific examples and terms used in gender-inclusive language.Comfort levels of genetic counselors with using gender-inclusive language.Findings from thematic analyses on the use of gendered language and its impact on patient care.Suggestions for additional training resources for healthcare professionals. Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”   Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU’s Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.   In this segment, we discuss: Challenges faced by TGD individuals in accessing hereditary cancer care.Participants' perspectives on gendered language in healthcare.Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. 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 DNADialoguesPodcast@gmail.com. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and our own, Kira Dineen. Our logo was designed by Ashlyn Enokian.    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 300 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 video lead is Amanda Andreoli. Our social media lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    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 info@DNAtoday.com.

Colleen Gioffreda was such a dynamic and charismatic guest in this episode of “It Happened To Me” we had to share it on DNA Today! Our host Kira Dineen is the Executive Producer on this podcast and joins as a guest host in this episode.    Colleen is the Clinical Operations Program Administrator for the Greenberg Center for Skeletal Dysplasias in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. She handles patient inquiries, coordinates the Little People of America (LPA) Medical Advisory Board clinics at the national conferences and regionals, provides school/social resources to patients and parents, and also manages budgets and databases.    In her volunteer life, Colleen is LPA’s Adoption Coordinator, and has helped facilitate the adoptions of over 400 children with dwarfism for the past seventeen years. She is also the Chair of the LPA Conference Management Committee and is a member of LPA’s Medical Advisory Board.    Colleen is lucky enough to answer to the name of ‘Mom’ to her four children, who also all happen to have achondroplasia, the most common form of dwarfism. She views having achondroplasia as an opportunity, and feels fortunate to have experienced such a unique and rich adventure in life.    Episode Highlights:   Understanding Terminology and Accommodations: Appropriate terms for individuals with achondroplasia and skeletal dysplasias.Vital accommodations for people with dwarfism in various aspects of life.   Home Modifications and Misconceptions: Recommended home alterations for individuals affected by dwarfism.Addressing misconceptions and stereotypes about dwarfism in her work.   Employment and Workplace Challenges: Employment roadblocks faced by little people and necessary workplace accommodations.   Career Path and Key Responsibilities: Colleen’s journey towards helping the skeletal dysplasia community.Key responsibilities in her role, including patient inquiries and coordinating medical advisory board clinics.   School and Social Resources: Providing school and social resources to patients and parents.Importance of this support in managing skeletal dysplasias.   Adoption Advocacy: Motivations for becoming involved in adoption advocacy.Experiences and insights from facilitating adoptions of children with dwarfism.Countries with higher frequencies of children with dwarfism waiting to be adopted.   LPA Conference Management: Involvement in the LPA Conference Management Committee and the significance of organizing conferences.Memorable and rewarding experiences supporting individuals and families.   Parental Support: Approaching support and resources for parents raising children with achondroplasia.   Community Advocacy and Medical Collaboration: Pressing issues within the dwarfism community and advocacy efforts.Response to FDA-approved treatment for achondroplasia (VOXZOGO® (vosoritide)) and differing viewpoints.Collaborating with medical professionals and researchers to advance understanding and treatment.   Personal and Professional Perspective: Influence of personal experience with achondroplasia on professional approach.Current initiatives and projects to support individuals with skeletal dysplasias.   Future Hopes and Advice: Hopes for the future of care and support for individuals with dwarfism.Advice for professionals and volunteers supporting individuals with rare genetic conditions.   Colleen Gioffreda shares invaluable insights into the world of dwarfism, from personal experiences to professional advocacy. Her work with the Greenberg Center and LPA highlights the importance of community, support, and dedicated advocacy for individuals with skeletal dysplasias. Be sure to check out more episodes of “It Happened To Me”.    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 300 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 info@DNAtoday.com.

Discover New Advances in the world of genetics. From genetic technology like CRISPR to rare diseases to new research. For over a decade host Kira Dineen has chatted with leaders in genetics like NBC’s Maury Povich, BBC’s Dr. Adam Rutherford, NIH’s Dr. Eric Green, NYT’s Carl Zimmer, NYU’s Dr. Arthur Caplan, NYer’s Dani Shapiro, and descendents of Henrietta Lacks.  The show has consistently been ranked in the top 1% of podcasts worldwide, has won the Best Science and Medicine Podcast Award for three consecutive years (2020-2022), and is backed up over 70 sponsors.  Who is featured as a guest in this teaser trailer? It's Victoria Gray! Hear the full interview on Episode 288 and 289.

How many biological children can one sperm donor create? What are the regulations surrounding donor sperm? How can prospective parents verify the sperm donor they selected is in fact the sperm they used to conceive?   The answers are shocking.   For two weeks “The Man With 1,000 Kids” was #1 on Netflix. As of this recording in late July 2024, it has amassed 5.5 million views. It is a documentary series that captures the impact one sperm donor has had on hundreds, or more likely thousands, of families around the world.    We're diving into this shocking story of fertility fraud with two people featured in this top streamed documentary. Eve Wiley is a leading advocate against fertility fraud after discovering that she was conceived with a different sperm donor than her parents were told. Laura is an Australian parent who discovered her two children’s sperm donor was a serial sperm donor Jonathan Jacob Meijer, whose impact is explored in this Netflix documentary series.  Episode Topics: How Eve, who was donor conceived, connected with Laura, who’s kids are donor conceivedEve’s motivation to become an advocate against fertility fraud, including her discoveries about her sperm donor and the impact on her family.Laura and her partner, Kate’s reactions to discovering the notoriety of their sperm donor, Jonathan Jacob Meijer, and the mysterious message about his actions.The emotional and psychological journey Laura and her partner have undergone since discovering the truth about their child’s biological origins.The implications of Jonathan’s refusal to share a list of his biological children, and the potential benefits such a list could offer to society and affected families.Genetic and psychological risks associated with widespread and unregulated sperm donation.Long-term concerns about inbreeding and the role of genetic sexual attraction in these situations.Current regulations and oversight of sperm donation, including the trial in the Netherlands and its significance in controlling male body autonomy.Comparison of sperm donation regulation to other areas of reproductive health.Current legislation in the United States regarding sperm donation and Eve’s efforts to change laws in Texas and other states.Challenges in advocating for fertility fraud legislation and ways people can support these efforts.Eve and Laura’s experience of having their stories featured on Netflix and the documentary’s impact.Jonathan’s actions post-trial, including his media appearances and any updates or public statements from him.Advice for individuals considering using sperm donation to start their families, with a focus on the importance of transparency and honesty in fertility treatments.Supporting children as they grow older and learn about their biological origins.The significance of making the New York Times front page with Jonathan’s story.The most challenging aspects of dealing with the situation.Messages for other families who might find themselves in similar situations.How society should address the issue of fertility fraud and ways people can get involved in advocating for stronger laws.   Takeaways Fertility fraud is a significant issue that affects families worldwide, and there is a need for legislation to address it.Genetic identity is crucial, and individuals have the right to know their biological origins.The fertility industry lacks proper regulations, leading to cases of fraud and potential risks of inbreeding.Support and advocacy are essential for donor-conceived individuals and their families. The lack of transparency and regulation in the sperm donation industry has led to cases of fraud and deception, with donors having more offspring than initially disclosed.There is a need for standardized guidelines and monitoring in the industry to ensure transparency and informed consent for all parties involved.Donor-conceived individuals and their families require mental health support and specialized counseling services to navigate the complexities and emotions associated with their unique situations.Advocacy efforts and legal action are necessary to bring about change and protect the rights and well-being of donor-conceived individuals and their families.Documentaries and media coverage play a crucial role in raising awareness and sparking conversations about the challenges and ethical considerations surrounding sperm donation.   During the episode we also mentioned H.R.451 - Protecting Families from Fertility Fraud Act of 2023 in the US. At the end of the show Laura recommended Donor Conceived Australia, an organization who has been working hard on legislation about importing donors which you can learn more about here.    You can learn more on Eve Wiley’s website here, particularly her pages about passed legislation and pending legislation.    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 300 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 info@DNAtoday.com.

We are delving into the genetic causes of epilepsy in this episode, specifically the role of ATP6V0C in epilepsy. To do so we are joined by Dr. Kari Mattison, Dr. Luis Miguel Oliveira, and Ana Rita.    Kari Mattison, PhD is a research scientist at the University of Minnesota - Twin Cities. She earned her PhD in Genetics and Molecular Biology from Emory University where her dissertation work was on functional evaluation of novel variants identified in early-onset epilepsy. Kari enjoys science communication having earned an ARCS scholar award while in grad school and working as Editor-in-Chief for the Journal of Emerging Investigators, a journal aimed at helping middle and high-school aged students learn the ins and outs of scientific publishing.   Luis Miguel Oliveira, PhD, is Founder and Executive Director of the v-ATPase Alliance, a non-profit dedicated to finding a cure for rare disorders caused by v-ATPase genetic mutations. He is also a Senior Associate Director of Research Programs at The Michael J. Fox Foundation, leading several research initiatives in translational research and biomarker development for Parkinson's disease.    Ana Rita faced the challenge of her firstborn being diagnosed with this ultra-rare genetic disease in the ATP6V0c gene, prompting her to utilize her expertise in economics, branding, communication and her entrepreneur spirit to make a difference. Despite being told there was no answer or treatment for her son, she began a mission to bring affected families together, learn from them, also questioning experts, doctors and researchers and surrounding herself with a team eager for change, committed to push boundaries and reshaping the future of all v-ATPase affected children and families. She is now a fierce Rare Disease Advocate utilizing mainly social media @anaritararemom.    Episode Topics: Overview of Dr. Mattison’s research on ATP6V0C and its connection to epilepsy.Dr. Mattison’s journey to studying the V-ATPase complex and its role in neurological disorders.Initial findings linking ATP6V0C to epilepsy.The impact of ATP6V0C variants on the function of the V-ATPase and genotype-phenotype correlations.How Dr. Oliveira discovered Dr. Mattison’s paper and their subsequent collaboration.Daniel’s symptoms and the diagnostic odyssey leading to the identification of the pathogenic variant in ATP6V0C.The inception of the v-ATPase Alliance, its mission, and goals.Resources and support offered by the v-ATPase Alliance to patients and their families.The importance of a patient-centric research agenda in the v-ATPase Alliance.Contributions of patients and families to research efforts, particularly through the Data Collection Program.Collaboration between researchers and patient advocacy groups like the v-ATPase Alliance.Future goals and initiatives planned for the v-ATPase Alliance.The evolution of the field of genetics, especially concerning neurological disorders.Advice for new patient advocates in the rare disease community.   You can read Dr. Mattison’s paper that we refer to throughout the interview here. Be sure to check out the v-ATPase Alliance including on Facebook, Instagram, LinkedIn, and X. If you are a scientist working on v-ATPases please reach out!    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 info@DNAtoday.com.