Neil Risch, PhD, MS

Director
Institute for Human Genetics
Research Overview: 

Dr. Risch, a statistical geneticist, genetic epidemiologist, and population geneticist is involved in a variety of projects of both a theoretical and applied nature. These studies include both clinical and population genetic projects.  He has developed novel tools and approaches for the mapping and identification of genetic variants underlying both Mendelian and non-Mendelian diseases.  For example, he contributed to the cloning of genes for torsion dystonia and hemochromatosis.  He defined admixture mapping in ethnically admixed populations as a tool for gene discovery and has applied it to such diseases as hypertension and lipidemia.  In collaboration with his colleague Kathleen Merikangas, he proposed genome-wide association studies as the next generation tool after linkage analysis for identifying novel disease susceptibility variants; this approach, now applied on a large scale, has identified thousands of novel disease and trait-related genetic variants.  Over the past decade, Dr. Risch has collaborated with colleagues at Kaiser Permanente Northern California Division of Research (where he holds an adjunct appointment) to develop a large cohort combining electronic health record information with environmental and genomic data for genetic epidemiology research related to aging.  The cohort contains approximately 110,000 individuals with genome-wide genotype and telomere length data, and has been the basis for a variety of genetic studies related to cardiovascular, metabolic and cancer outcomes.  He is also currently active in genetic epidemiologic studies of autism spectrum disorder, utilizing a large cohort of affected families identified through state of California record linkage databases.  In the realm of population genetics, he has characterized the role of ancestry in mate selection and its impact on genetic patterns of linkage disequilibrium in the population over time.  He has developed novel methods for estimating kinship in admixed populations, and also described methods of admixture analysis in populations which have undergone significant genetic drift, such as the Ashkenazi Jewish population.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Human Genetics, Population Genetics, Statistical Genetics, Genetic Epidemiology

Websites

Publications: 

Uncertainty in the estimated effects of statin initiation on risk of dementia: using a multiverse analysis to assess sources of variability.

European journal of epidemiology

Ferguson EL, Zimmerman SC, Jiang C, Choi M, Meyers TJ, Hoffmann TJ, Gilsanz P, Wang J, Oni-Orisan A, Whitmer RA, Risch N, Krauss RM, Patel CJ, Schaefer CA, Glymour MM

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

medRxiv : the preprint server for health sciences

Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A

Dissecting the Reduced Penetrance of Putative Loss-of-Function Variants in Population-Scale Biobanks.

medRxiv : the preprint server for health sciences

Blair DR, Risch N

Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+ years of follow-up.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Choi M, Zimmerman SC, Jiang C, Wang J, Swinnerton K, Hoffmann TJ, Oni-Orisan A, Ferguson EL, Meyers T, Choudhary V, Whitmer RA, Risch N, Krauss RM, Schaefer CM, Glymour MM, Gilsanz P

Independent associations of high-density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Ferguson EL, Zimmerman SC, Jiang C, Choi M, Meyers TJ, Hoffmann TJ, Gilsanz P, Oni-Orisan A, Wang J, Whitmer RA, Risch N, Krauss RM, Schaefer CA, Glymour MM