Robert L. Nussbaum

Geneticist and physician whose career focused on identifying human Mendelian disease genes, exploring their normal biological function and delineating how mutations in these genes cause disease. There are two overriding motivations for his research. One is that Mendelian disorders illuminate normal biology. In the case of Lowe syndrome, his work identified important links between phosphatidylinositolphosphate metabolism and endosomal trafficking. For his efforts in studying this rare disorder, he received multiple Research Achievement Awards from the Lowe Syndrome Association. The other motivation is based on the hypothesis that identifying a rare genetic cause for a Mendelian form of a disorder that also occurs as a more common sporadic disease will contribute to understanding the more common form of the disease. Here, his work on hereditary Parkinson disease, which led to the identification of alpha-synuclein, is a paradigm. Alpha-synuclein is recognized as an important focus for research into both pathogenesis and treatment of Parkinson disease. For this work, he received the Klaus Joachim Ziilch-Prize for Neurological Research from the Gertrud Reemtsma Foundation/Max Planck Society in 2011. More recently, he has joined the private sector, becoming Chief Medical Officer of Invitae, a genetic testing and information company. He is working to investigate the most useful and impactful ways to use genetic information for mainstream diagnostics as well as for prevention of disease in the public health setting.