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#388 From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey
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
#387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System
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 diagnost
#386 Achondroplasia Beyond Height: Managing Lifelong Medical Needs
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
#385 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity
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
#384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey
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
#383 Inside the Brazilian Rare Genomes Project
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
#382 “The Persistence Lab” Episode 1 — Can We Find Cures Faster?
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 innovat
#381 Charles Darwin’s Legacy: What He Got Right & What Science Learned Next
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 thi
#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I
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, re
#379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing
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 reliabi
#378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients
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
#377 Integrating Pharmacogenomics (PGX) into Elder Care
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-
#376 Why Females with Fabry Disease Aren’t “Just Carriers”
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 presen
#375 How Your Publication Can Fuel Genetic Innovation
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 tha
#374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine
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 podc
#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis
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 new
#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy
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 chi
#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy
In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference (https://nergg.org/), we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who l
#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
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’ “Ge
#369 Grant Funding for Genetic Counselors: Advice from a $20M Awardee
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 groundbreak
#368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency
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 abn
#367 “Gods and Genes”: A Podcast Exploring Science & Spirituality
Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “Gods and Genes (https://godsandgenes.podbean.com/)”, a new brand podcast in the Gene Pool Media (https://www.genepoolmedia.com/)
#366 Inside NSGC 2025: Entrepreneurship, Career Growth, & Genetic Counseling Trends
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 e
#365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science
The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vac
#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel
On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast canc
#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding
We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting (https://meetings.ashg.org/event/ASHG25/home/) in the historic Boston, Massachusetts! This year’s gathering brought together thousands o
#362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests
What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and str
#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice
The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut. Our host Kira Dineen
#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”
What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real
#359 Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains
What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today. Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders.
