DNA Today: A Genetics Podcast

February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community— Gay Grossman ! Gay is the co-founder of ADCY5.org , a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-bod...

True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wro...

We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).  Joining us are two leading experts in the field: Dr. Lea Starita, Associate Professor at the University of Washington and Co-Director of the Brotman Baty Advanced Technology Lab. Dr. Douglas Fowler, Professor of Genome Sciences and Co-Director of the Center for the Multiplexed...

With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy.    To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field...

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think...

Two years of treatment—two years of strength, courage, and blazing a trail for other nano-rare patients!    In this special episode drop, we’re revisiting the inspiring journey of Susannah, whose story was the first ever shared on the Patient Empowerment Program podcast. Now, two years later, Susannah’s father, Luke Rosen, and her physician, Dr. Jennifer Bain, join us to share her remarkable progr...

On Episode 310 , we explored the powerful work of Father Founded, an organization dedicated to reuniting Amerasian families separated by war. We shared the heartwarming story of Scott McMullen, a retired firefighter and veteran, who discovered his long-lost daughter through the group's efforts. With how popular this episode was, we wanted to share another story from Father Founded. So we are going...

“DNA Today” isn’t the only podcast that Kira Dineen produces. She also is involved on the production of other genetics shows like the Journal of Genetic Counseling’s new podcast “ DNA Dialogues ”, n-Lorem’s “ Patient Empowerment Program ”, Know Rare’s “ Rare Insights ”, The PhenoTips’ Speaker Series , and relevant to this episode, she is the Executive Producer of “ It Happened To Me ” explores rar...

With 2025 right around the corner, we are discussing the brand new CPT Code 96041 that will be effective January 1st, 2025. This is a game-changer for the genetic counseling profession, and we have two experts to break it down for us. Dr. Colleen Campbell is in the last weeks of her NSGC presidency. She also serves as the Director of Genetic Counseling Operations for University of Iowa Health Care...

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics   Bruce D. Gelb, M.D. is the outgoing President of the American Society of Human Genetics (ASHG). He is also the Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Gen...

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...

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...

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 organi...

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...

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 contr...

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...

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 experi...

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 father...

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,...

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...

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—...

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,...

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 D...

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 Galv...

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 innovati...