Understanding mosaicism and the case of SLC35A2-CDG
Failed to add items
Add to basket failed.
Add to Wish List failed.
Remove from Wish List failed.
Follow podcast failed
Unfollow podcast failed
Understanding mosaicism and the case of SLC35A2-CDG
-
Narrated by:
-
By:
About this listen
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.