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

Alexander Disease Research Update

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: [e-mail]

Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:

https://alexander-disease.waisman.wisc.edu/donate/

Chapters

1. Alexander Disease Research Update - Episode #7 - common drugs tested in cell culture model; germline mosaicism vs de novo variants; electronic health records in research (00:00:00)

2. Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease (00:01:01)

3. Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation (00:06:10)

4. Questions (00:14:46)

5. Electronic Health Records and Research (00:17:52)