Research

Our research focuses on the genetic and neuropharmacologic underpinnings of complex behavioral disorders. We work on several different projects under this broad theme, including dystoniaLesch-Nyhan disease, and channelopathies (episodic neurological disorders). The goal is to better understand and treat these neurological disorders by using a true bench to bedside approach. Our group consists of basic science and clinical research components. We use a multi-disciplinary approach to determine the contribution of the basal ganglia and cerebellum to different disorders. We manipulate specific subpopulations of neurons using genetically engineered mice, viral vectors or drug challenges by targeting ion channels, receptors or neurotransmitters to cause or suppress dysfunction. We assess the effects of these manipulations on neuronal function and behavior to pinpoint the source of the dysfunctional signal. Our experiments have resulted in the development and characterization of several mouse models of human disease in our lab and in collaboration with others. This strategy provides a better understanding of the mechanisms underlying neurological dysfunction as well as the development of novel treatments. Our clinical work is aimed primarily at translational research. This includes more precise characterizations of clinical phenotypes, exploring genotype-phenotype relationships, neuroimaging of the brain, biorepositories for exploring biomarkers of disease, and clinical trials of promising new treatments.