DNA Today: A Genetics Podcast

In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2. You may know Prince as one of the most influential musicians of all time...

Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star"...

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis.  Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condi...

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in...

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part s...

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference!    We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is help...

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare...

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.   In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the b...

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab.    This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound desi...

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution. In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and...

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels.    The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drive...

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. In this conversation, we bring together three experts from around the world working at the intersection of oncology diagn...

February 3rd, 2026 Update: The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President sign...

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life. Our guest is Michele Magner, a Certified De...

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts....

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridgi...

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning?  To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicin...

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highl...

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a no...

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference , we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while buil...

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026.    The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper.     Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green.    In this re...

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it...

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency.  This session was recorded in-person, providing a more dynamic and engaging learning experience th...

Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “ Gods and Genes ”, a new brand podcast in the Gene Pool Media network hosted by Amber Sher, MS, CGC. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own w...

We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field. This marks the 7th year in a row...