Neil Risch, PhD, MS

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: 
Research Summary: 
Human Genetics, Population Genetics, Statistical Genetics, Genetic Epidemiology



Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.

NPJ genomic medicine

Mavura Y, Sahin-Hodoglugil N, Hodoglugil U, Kvale M, Martin PM, Van Ziffle J, Devine WP, Ackerman SL, Koenig BA, Kwok PY, Norton ME, Slavotinek A, Risch N

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

NPJ genomic medicine

Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Nature communications

Budu-Aggrey A, Kilanowski A, Sobczyk MK, 23andMe Research Team, Shringarpure SS, Mitchell R, Reis K, Reigo A, Estonian Biobank Research Team, Mägi R, Nelis M, Tanaka N, Brumpton BM, Thomas LF, Sole-Navais P, Flatley C, Espuela-Ortiz A, Herrera-Luis E, Lominchar JVT, Bork-Jensen J, Marenholz I, Arnau-Soler A, Jeong A, Fawcett KA, Baurecht H, Rodriguez E, Alves AC, Kumar A, Sleiman PM, Chang X, Medina-Gomez C, Hu C, Xu CJ, Qi C, El-Heis S, Titcombe P, Antoun E, Fadista J, Wang CA, Thiering E, Wu B, Kress S, Kothalawala DM, Kadalayil L, Duan J, Zhang H, Hadebe S, Hoffmann T, Jorgenson E, Choquet H, Risch N, Njølstad P, Andreassen OA, Johansson S, Almqvist C, Gong T, Ullemar V, Karlsson R, Magnusson PKE, Szwajda A, Burchard EG, Thyssen JP, Hansen T, Kårhus LL, Dantoft TM, Jeanrenaud ACSN, Ghauri A, Arnold A, Homuth G, Lau S, Nöthen MM, Hübner N, Imboden M, Visconti A, Falchi M, Bataille V, Hysi P, Ballardini N, Boomsma DI, Hottenga JJ, Müller-Nurasyid M, Ahluwalia TS, Stokholm J, Chawes B, Schoos AM, Esplugues A, Bustamante M, Raby B, Arshad S, German C, Esko T, Milani LA, Metspalu A, Terao C, Abuabara K, Løset M, Hveem K, Jacobsson B, Pino-Yanes M, Strachan DP, Grarup N, Linneberg A, Lee YA, Probst-Hensch N, Weidinger S, Jarvelin MR, Melén E, Hakonarson H, Irvine AD, Jarvis D, Nijsten T, Duijts L, Vonk JM, Koppelmann GH, Godfrey KM, Barton SJ, Feenstra B, Pennell CE, Sly PD, Holt PG, Williams LK, Bisgaard H, Bønnelykke K, Curtin J, Simpson A, Murray C, Schikowski T, Bunyavanich S, Weiss ST, Holloway JW, Min JL, Brown SJ, Standl M, Paternoster L

Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan.


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