Understanding mosaicism and the case of SLC35A2-CDG

https://is1-ssl.mzstatic.com/image/thumb/Podcasts126/v4/84/a1/17/84a11723-b170-cf7d-3e0b-dcec5c835970/mza_6307712272863928801.jpg/600x600bb.jpg

GlycoCast, a journey of families, sugars and rare disorders

Ivan Martinez Duncker

13 episodes

4 days ago

Welcome to GlycoCast, the podcast where the sweet science of sugars meets the mysteries of medicine, and our shared humanity comes to life. We will focus on a journey of families, sugars and rare disorders called Congenital Disorders of Glycosylation. We'll bring you tales of struggle and perseverance, as we speak to families affected by CDGs, learn about their experiences, their challenges, and their achievements. We'll hear from the researchers on the front lines, unearthing the mysteries of CDGs, and the healthcare professionals who play a key role in managing these disorders.

Medicine

Health & Fitness

RSS

All content for GlycoCast, a journey of families, sugars and rare disorders is the property of Ivan Martinez Duncker and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.

Medicine

Health & Fitness

https://d3t3ozftmdmh3i.cloudfront.net/staging/podcast_uploaded_episode/38482345/38482345-1758999462114-84001926bc0e8.jpg

Understanding mosaicism and the case of SLC35A2-CDG

GlycoCast, a journey of families, sugars and rare disorders

25 minutes 40 seconds

1 month ago

Understanding mosaicism and the case of SLC35A2-CDG

A podcast with our special guest Dr. Tracy Bedrosian from the Steven and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital where she heads the Bedrosian Lab

Tracy has spent her career exploring how our brains develop and what happens when that process goes off track. Her research dives deep into genomics and a fascinating phenomenon called mosaicism that shapes brain development, influence conditions like epilepsy, and even intersects with rare genetic disorders like Congenital Disorders of Glycosylation (CDGs).

In today’s conversation, we’ll unpack how her lab studies mosaic genetic variation and why this matters for understanding neurological complications of CDGs — especially SLC35A2-CDG, where cells struggle to transport UDP-galactose into the Golgi, the cellular factory where sugar chains, or glycans, are built.

This episode is made possible through the support of CDG CARE, a nonprofit organization founded by parents seeking information and support for CDGs.