Dr. Diane O’Dowd, HHMI Professor and Chair of Developmental and Cell Biology receives large 5 year NIH grant to study cellular mechanisms of epilepsy.
With a new $2.5 M grant from NINDS, O’Dowd’s lab will study genetic epilepsies associated with mutations in the SCN1A sodium channel gene. There are literally hundreds of mutations in this gene that result in human seizure disorders known as Dravet Syndrome (DS) and GEFS+. They will use two complementary model systems: fruit flies, Drososphila melanogaster, carrying specific disease causing mutations and iPSC-derived neurons from DS and GEFS+ patients with the same mutations to explore the underlying disease mechanisms. This two-pronged approach provides a novel platform for defining the cellular mechanisms contributing to seizure disorders and developing new therapies for treatment.