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