Hereditary diseases and disorders

EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run]

La transition de l'enfant à l'adulte dans la mucoviscidose Pr Bouchra DAHER

The transition from child to adult in cystic fibrosis Pr Bouchra DAHER

Day 3 - Analysis of EDS - Duscher

EP 246: Turning a fatal diagnosis into a cure strategy with Yentli Soto Albrecht of CureC9

Angioedème héréditaire

Hereditary angioedema

Achondroplasia Beyond Height: Managing Lifelong Medical Needs

Clinical Characteristics of PALB2-Associated Breast Cancer

Why Females with Fabry Disease Aren’t “Just Carriers”

EP 216: Four decades of advancing Duchenne research with Jeffrey Chamberlain of University of Was...

EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now

EP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics

🎥✨ Martes de Divulgación Científica - 14 de octubre 2025 - Atrofia muscular espinal

🎥✨ Scientific Outreach Tuesday - October 14, 2025 - Spinal Muscular Atrophy

EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now

EP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics

🪐La première malédiction de Toutankhamon : la génétique - REUPLOAD

🪐Tutankhamun's First Curse: Genetics - REUPLOAD

Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains

Fragile X Syndrome - Can Drugs Be Used To Reverse Autism?

Children Aging Before Their Time: Can Progeria Now Be Treated?