Department of Epidemiology & Biostatistics

Faculty Profile

Neil Risch, PhD

Neil Risch photo

Professor, Division of Biostatistics
Director, Institute for Human Genetics

UCSF Box 0794
Institute for Human Genetics
513 Parnassus Avenue, Suite S965
San Francisco, CA 94143-0794

415 / 476-1127

Before coming to UCSF in 2004, Dr. Risch was professor of genetics at Stanford, with appointments also in statistics and health research and policy. Before that, he was at Yale University, where his primary appointment was in biostatistics.

Principal Research Interests

Dr. Risch, a statistical geneticist and genetic epidemiologist, is involved in a variety of projects of both a theoretical and applied nature. These studies include both clinical and population genetic projects. For example, one study involves identification of genes underlying the torsion dystonias. To date, Dr. Risch and his collaborators have identified several genes for specific subtypes of idiopathic dystonia. Yet a number of variant forms remain unmapped. Current research involves additional mapping and positional cloning of these variant forms. Dr. Risch has also been involved in large, multi-site collaborative projects on genetic susceptibility to hypertension and cardiovascular disease endpoints (the NHLBI funded Family Blood Pressure Program, and the Reynolds Foundation funded Heart, Health and Heredity study). These projects involve linkage analysis, positional cloning, and population based association studies. One of these studies recently led to the identification of regions on chromosomes 6 and 21 by admixture linkage disequilibrium analysis in African American subjects with hypertension. Over the next several years, he plans to expand the admixture studies to other cardiovascular and metabolic phenotypes in both African American and Hispanic study subjects. Dr. Risch also has a longstanding collaborative project underway, with Canadian colleagues, on genetic susceptibility to multiple sclerosis. These studies involve both genetic and environmental hypotheses. In the genetics realm, he plans to continue linkage and positional cloning projects on over 1,000 multi-case families, plus undertake new candidate gene studies as well as linkage disequilibrium approaches. A major focus will continue on examination of genetic contributions of the HLA region. He also plans to continue his population genetic studies, examining the relationship between genetic variation and social categorizations such as race and ethnicity, and the importance of these relationships for identifying genetic factors underlying common and complex diseases, as well as rarer, Mendelian forms. He also plans to continue his collaborative efforts with Drs. Kathleen Giacomini at UCSF and Catherine Schaefer at Kaiser Division of Research in Oakland on pharmacogenetics of membrane transporters, and specifically their role in response to antidepressant medications.


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