Alexander Disease Research Update - Episode #14: whole exome/genome sequencing; more questions on the brainstem
Manage episode 346864618 series 2952470
By Albee Messing. Discovered by Player FM and our community — copyright is owned by the publisher, not Player FM, and audio is streamed directly from their servers. Hit the Subscribe button to track updates in Player FM, or paste the feed URL into other podcast apps.
Albee Messing and Josh Bonkowsky discuss the following recent publication:
[02:13] Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European Journal of Medical Research 27, 174 (2022) [full text]
[14:20] Questions from email regarding the brainstem in Alexander disease.
Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
15 episodes
Share
))
