It Happened To Me episode featuring guest Colleen Gioffreda shares her experience living with dwarfism including her roles at Johns Hopkins, Little People of America, and as a mother.
All tagged genetic condition
#281 Tay-Sachs with Dr. Matthew Goldstein
Episode drop of “It Happened To Me” sharing the story of a heartbreaking Tay Sachs diagnosis inspiring a career in carrier screening.
#269 Computer Vision Diagnosing Genetic Disorders with Robert Boscacci
“The Spring of Sight'' author discusses how computer vision technology could be utilized as a tool to diagnose genetic diseases based on pictures of physical features.
#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne
Oguzhan Atay and Jen Hoskovec of BillionToOne discuss UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions.
#213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent
Sage Sargent, patient advocate for congenital adrenal hyperplasia, shares her experience as an intersex person with the condition.
#176 Glee's Lauren Potter on Down Syndrome Awareness
Lauren Potter (aka Becky Jackson from Fox’s hit TV show Glee) discusses Down Syndrome awareness and advocacy.
#149 CF Series: Gunnar Esiason on Patient Advocacy
Rare disease patient leader shares about his journey with cystic fibrosis and how he utilizes his experience to advocate for the community.