PhD, Ohio State University
Professor of Human Genetics and Neurology
The goal of our laboratory is to elucidate the molecular mechanlsms underlying inheriteed neurological disorders and to evaluate therapeutic interventions. We have generated several mouse models with knock-in of patient mutations that reproduce the human pathophysiology, with a focus on mutations of the sodium channel gene SCN8A (Nav1.6) in developmental encephalopathy and disorders of phosphoinositide biosynthesis such as Charcot-Marie-Tooth Syndrome. We are currently evaluating antisense oligos (ASOs) as an intervention for gain-of-function sodium channel mutations, and identification of modifier genes as alternative therapeutic targets.