Huntington’s disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder has acted as a flagship for the application of human molecular genetic strategies to identify disease genes, understand pathogenesis and identify rational targets for development of therapies.
Dr. Khera is a physician-scientist with expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, […]
My research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Our work is focused […]
Dr. Scharf is a behavioral neurologist and human geneticist whose lab uses genetic and clinical research tools to identify the underlying cause(s) and pathogenesis of Tourette Syndrome (TS) and related […]
Richa Saxena, a human geneticist, uses genetics to understand the biological basis of people’s daily behavioral rhythms and sleep patterns, and to illuminate meaningful links of sleep and circadian rhythms […]
Chris Newton-Cheh is a heart failure cardiologist and human geneticist. The Newton-Cheh lab studies the genetic basis of cardiovascular traits and disease, follows up genetic leads to identify previously unsuspected […]
Dr. Musolino is a clinician-scientist devoted to caring for patients of all ages with devastating brain injury such as stroke and demyelination. Her research revolves around the translation of discoveries […]