Parkinson's Disease Genetics Expert Wins Research Grant

June 29, 2006
News Office: Wallace Ravven (415) 502-6397

Dr. Robert L. Nussbaum, professor of medicine and chief of medical genetics at UCSF Medical Center, has been awarded one of seven research grants from the Michael J. Fox Foundation for Parkinson's Research to develop mammalian models of Parkinson's disease, the foundation announced this week. The lack of validated models of this kind is considered a prime roadblock to the development of treatments to prevent, slow or stop progression of the disease, the organization said.

Nussbaum joined the UCSF faculty in April as the Holly Smith Distinguished Professor in Medicine. He comes to UCSF from the National Human Genome Research Institute, where he was chief of the Genetic Disease Research Branch. The institute is one of the National Institutes of Health.

Nussbaum, who was elected to the Institute of Medicine in 2004, was co-discoverer of the first inherited form of Parkinson's disease, a mutation in the gene that encodes the brain protein alpha-synuclein. He has since been working to identify other inherited forms of the disease through family studies.

Although inherited forms of the disease are rare, the opportunity to discover and understand the mechanisms in rare hereditary forms can provide insight into pathways and processes that may be involved in the more common forms.

Nussbaum is a member of the UCSF Institute for Human Genetics. In addition to continuing his Parkinson's research, he will be starting a translational research effort to assess the value of applying genetic and genomic approaches to improve patient care. He wants to evaluate if and how genetic and genomic information about an individual can be used effectively to improve health care by improving outcomes, reducing adverse reactions, lowering costs and promoting health through risk education.

The animal model Nussbaum proposed to develop with support from the Michael J. Fox Foundation for Parkinson's Research is intended to offer researchers a way to study early disease development. He will breed different lines of mice expressing the normal or mutated form of human alpha-synuclein in the absence of the mouse's "on" gene for the protein. The resulting mice will be followed for two years to see whether those with a double dose of mutated alpha-synuclein develop any of the abnormalities seen in Parkinson's.