Chief Medical Officer, Invitae
Clinical Professor, UCSF Department of Medicine
Member, UCSF Institute for Human Genetics
Dr. Robert L. Nussbaum is a leading human and clinical geneticist who specializes in the care of adults with hereditary disorders. His research has long focused on elucidating the genetic basis of disease, including Parkinson disease, Lowe syndrome, and many others. In 1993, Dr. Nussbaum helped launch the new intramural research program of what became the National Human Genome Research Institute. In 1996, he and his colleague Dr. Mihales Polymeropoulos mapped and identified the first hereditary form of Parkinson disease. Dr. Nussbaum was Chief of the Genetic Disease Research Branch of the NHGRI until 2006, when he joined UCSF as the Holly Smith Professor of Medicine. In August 2015, he became Chief Medical Officer at Invitae Corporation in San Francisco.
Dr. Nussbaum is a member of the Institute of Medicine and a fellow at the American Academy of Arts and Sciences. In October, he will be a co-recipient of the 2015 Award for Excellence in Human Genetics Education from the American Society of Human Genetics.
A pivotal event in his career was the journal club he gave as a brand new postdoctoral fellow in C. Thomas Caskey’s lab at Baylor College of Medicine, in which he discussed the now famous paper by YW Kan and AM Dozy entitled “Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation”. According to Dr. Nussbaum, “this paper opened the eyes of human genetics researchers to the power of modern molecular genetics to transform human gene mapping, genetic disease diagnostics and population genetics. Coincidentally, this paper persuaded me to alter my plans to be an oncologist and, instead, to pursue a career in human genetics research and clinical care. For this, I am extremely grateful to Dr. Kan.”