Robert Nussbaum, MD
Holly Smith Professor of Science and Medicine
Chief, Division of Genomic Medicine, Department of Medicine
Graduate Program Membership: BMS
Dr. Nussbaum studies genetic contributions to developmental, neurodegenerative and cardiovascular disorders. Two areas of concentration are Lowe syndrome and Parkinson disease. Dr. Nussbaum’s group identified the defective gene that causes Lowe syndrome and pioneered the delivery of genetic services and counseling, including carrier testing, to families of Lowe syndrome patients. In his Parkinson disease work, he identified a missense mutation and established the alpha-synuclein gene (SNCA) as a cause of hereditary, early onset Parkinson Disease. His group also focuses on mouse models, and has engineered several transgenic mice expressing mutant human alpha-synuclein that show a severe, rapid neurological deterioration.