#389 From Natural History to Gene Therapy: The Future of Danon Disease Research
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 (auto...
10 Huhti 32min
#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...
3 Huhti 30min
#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 con...
27 Maalis 1h 7min
#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. ...
20 Maalis 42min
#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 lates...
14 Maalis 45min
#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 uncer...
6 Maalis 25min
#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 re...
27 Helmi 31min
#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 ...
20 Helmi 22min
