Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research
Manage episode 318848403 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 Michael Brenner discuss the following recent publications:
[01:01] Bachetti T et al. (2021). Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. Frontiers in Pharmacology 12, 723218 [full text]
[06:10] Grossi A et al. (2021). Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Frontiers in Genetics 12, 744068 [full text]
[first convincing case of germline mosaicism in parent]
[14:46] Questions from email regarding the rat-ASO publication and variability in severity in humans.
[17:52] Murrray Brilliant joins to discuss how electronic health records are used in research and whether this will give us better estimates of national or world-wide numbers of people who have Alexander disease.
Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
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