Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research

Send us Fan MailAlbee 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:  [email protected] support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:          https://alexander-disease.waisman.wisc.edu/donate/