University of California San Francisco
Helen Diller Family Comprehensive Cancer Center
Neil J. Risch, PhD

Neil J. Risch, PhD

Professor, Department of Epidemiology and Biostatistics, and Director, Center for Human Genetics, UCSF
Lamond Family Foundation Distinguished Professorship in Human Genetics

Cancer Center Program Memberships

Affiliate Member

Education

California Institute of Technology, BS, 1972, Mathematics
Univ of Illinois at Urbana, MS, 1973, Mathematics
Univ of California, Los Angeles, PhD, 1979, Biomathematics


Professional Experience

  • 1972-1973
    Teaching Assistant in Mathematics, University of Illinois
  • 1973-1976
    Medical Statistician, Brentwood-Los Angeles VA Hospital
  • 1974-1975
    UCLA Regents Fellowship
  • 1975-1978
    NIH Genetics Traineeship, UCLA
  • 1979-1982
    Research Scientist, Dept. of Med. Genetics, New York State Psychiatric Institute
  • 1980-1981
    Research Associate, Dept. of Psychiatry, Columbia Univ. College of Physicians and Surgeons
  • 1981-1984
    Asst. Prof. of Public Health (Biostatistics) in Psychiatry, Columbia University
  • 1984-1987
    Asst. Prof. of Public Health (Biostatistics) and Genetics, Yale Univ. School of Medicine
  • 1987-1992
    Assoc. Prof. of Public Health (Biostatistics) and Genetics, Yale Univ. School of Medicine
  • 1992-1994
    Prof. of Public Health (Biostatistics) and Genetics, Yale Univ. School of Medicine
  • 1995-2004
    Prof. of Genetics, Stanford University School of Medicine
  • 1997-2004
    Prof. of Statistics (by courtesy), Stanford University
  • 2005-present
    Prof. of Epidemiology and Biostatistics, Lamond Family Foundation Distinguished Professorship in Human Genetics, UCSF

Honors & Awards

  • 1972
    University Fellow, University of Illinois
  • 1974
    UCLA Regents Fellow
  • 1978
    UCLA University Fellow
  • 1987
    NIH Research Career Development Award
  • 1987
    American Mental Health Fund Research Award
  • 1993
    Honorary Master of Arts Degree, Yale University
  • 2004
    Curt Stern Award, Amer Society of Human Genetics
  • 2005
    First Interviewee, PLoS Genetics

Selected Publications

  1. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508.
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  2. Liang J, Le TH, Edwards DRV, Tayo BO, Gaulton KJ, Smith JA, Lu Y, Jensen RA, Chen G, Yanek LR, Schwander K, Tajuddin SM, Sofer T, Kim W, Kayima J, McKenzie CA, Fox E, Nalls MA, Young JH, Sun YV, Lane JM, Cechova S, Zhou J, Tang H, Fornage M, Musani SK, Wang H, Lee J, Adeyemo A, Dreisbach AW, Forrester T, Chu PL, Cappola A, Evans MK, Morrison AC, Martin LW, Wiggins KL, Hui Q, Zhao W, Jackson RD, Ware EB, Faul JD, Reiner AP, Bray M, Denny JC, Mosley TH, Palmas W, Guo X, Papanicolaou GJ, Penman AD, Polak JF, Rice K, Taylor KD, Boerwinkle E, Bottinger EP, Liu K, Risch N, Hunt SC, Kooperberg C, Zonderman AB, Laurie CC, Becker DM, Cai J, Loos RJF, Psaty BM, Weir DR, Kardia SLR, Arnett DK, Won S, Edwards TL, Redline S, Cooper RS, Rao DC, Rotter JI, Rotimi C, Levy D, Chakravarti A, Zhu X, Franceschini N. Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. PLoS Genet. 2017 May; 13(5):e1006728.
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  3. Jorgenson E, Thai KK, Hoffmann TJ, Sakoda LC, Kvale MN, Banda Y, Schaefer C, Risch N, Mertens J, Weisner C, Choquet H. Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. Mol Psychiatry. 2017 Sep; 22(9):1359-1367.
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  4. Hoffmann TJ, Passarelli MN, Graff RE, Emami NC, Sakoda LC, Jorgenson E, Habel LA, Shan J, Ranatunga DK, Quesenberry CP, Chao CR, Ghai NR, Aaronson D, Presti J, Nordström T, Wang Z, Berndt SI, Chanock SJ, Mosley JD, Klein RJ, Middha M, Lilja H, Melander O, Kvale MN, Kwok PY, Schaefer C, Risch N, Van Den Eeden SK, Witte JS. Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. Nat Commun. 2017 Jan 31; 8:14248.
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  5. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2).
    View on PubMed
  6. Hoffmann TJ, Ehret GB, Nandakumar P, Ranatunga D, Schaefer C, Kwok PY, Iribarren C, Chakravarti A, Risch N. Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Nat Genet. 2017 Jan; 49(1):54-64.
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  7. Hoffmann TJ, Keats BJ, Yoshikawa N, Schaefer C, Risch N, Lustig LR. A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. PLoS Genet. 2016 Oct; 12(10):e1006371.
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  8. Hall JL, Ryan JJ, Bray BE, Brown C, Lanfear D, Newby LK, Relling MV, Risch NJ, Roden DM, Shaw SY, Tcheng JE, Tenenbaum J, Wang TN, Weintraub WS. Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. Circ Cardiovasc Genet. 2016 Apr; 9(2):193-202.
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  9. Risch N. Presidential Address: All in the Family, or "Gee, Our Old LaSalle Ran Great". Am J Hum Genet. 2016 Mar 03; 98(3):407-416.
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  10. Jorgenson E, Melles RB, Hoffmann TJ, Jia X, Sakoda LC, Kvale MN, Banda Y, Schaefer C, Risch N, Shen L. Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. Eur J Hum Genet. 2016 Jul; 24(7):1049-55.
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  11. Shen L, Melles RB, Metlapally R, Barcellos L, Schaefer C, Risch N, Herrinton LJ, Wildsoet C, Jorgenson E. The Association of Refractive Error with Glaucoma in a Multiethnic Population. Ophthalmology. 2016 Jan; 123(1):92-101.
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  12. Shen L, Hoffmann TJ, Melles RB, Sakoda LC, Kvale MN, Banda Y, Schaefer C, Risch N, Jorgenson E. Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes. Invest Ophthalmol Vis Sci. 2015 Jul; 56(8):4290-9.
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  13. Banda Y, Kvale MN, Hoffmann TJ, Hesselson SE, Ranatunga D, Tang H, Sabatti C, Croen LA, Dispensa BP, Henderson M, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Olberg D, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Sciortino S, Shen L, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Kwok PY, Schaefer C, Risch N. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1285-95.
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  14. Kvale MN, Hesselson S, Hoffmann TJ, Cao Y, Chan D, Connell S, Croen LA, Dispensa BP, Eshragh J, Finn A, Gollub J, Iribarren C, Jorgenson E, Kushi LH, Lao R, Lu Y, Ludwig D, Mathauda GK, McGuire WB, Mei G, Miles S, Mittman M, Patil M, Quesenberry CP, Ranatunga D, Rowell S, Sadler M, Sakoda LC, Shapero M, Shen L, Shenoy T, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Wan E, Webster T, Whitmer RA, Wong S, Zau C, Zhan Y, Schaefer C, Kwok PY, Risch N. Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1051-60.
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  15. Lapham K, Kvale MN, Lin J, Connell S, Croen LA, Dispensa BP, Fang L, Hesselson S, Hoffmann TJ, Iribarren C, Jorgenson E, Kushi LH, Ludwig D, Matsuguchi T, McGuire WB, Miles S, Quesenberry CP, Rowell S, Sadler M, Sakoda LC, Smethurst D, Somkin CP, Van Den Eeden SK, Walter L, Whitmer RA, Kwok PY, Risch N, Schaefer C, Blackburn EH. Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort. Genetics. 2015 Aug; 200(4):1061-72.
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  16. Hoffmann TJ, Van Den Eeden SK, Sakoda LC, Jorgenson E, Habel LA, Graff RE, Passarelli MN, Cario CL, Emami NC, Chao CR, Ghai NR, Shan J, Ranatunga DK, Quesenberry CP, Aaronson D, Presti J, Wang Z, Berndt SI, Chanock SJ, McDonnell SK, French AJ, Schaid DJ, Thibodeau SN, Li Q, Freedman ML, Penney KL, Mucci LA, Haiman CA, Henderson BE, Seminara D, Kvale MN, Kwok PY, Schaefer C, Risch N, Witte JS. A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. Cancer Discov. 2015 Aug; 5(8):878-91.
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  17. Wen CC, Yee SW, Liang X, Hoffmann TJ, Kvale MN, Banda Y, Jorgenson E, Schaefer C, Risch N, Giacomini KM. Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin Pharmacol Ther. 2015 May; 97(5):518-25.
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  18. Hoffmann TJ, Sakoda LC, Shen L, Jorgenson E, Habel LA, Liu J, Kvale MN, Asgari MM, Banda Y, Corley D, Kushi LH, Quesenberry CP, Schaefer C, Van Den Eeden SK, Risch N, Witte JS. Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. PLoS Genet. 2015 Jan; 11(1):e1004930.
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  19. Shetty PB, Tang H, Feng T, Tayo B, Morrison AC, Kardia SL, Hanis CL, Arnett DK, Hunt SC, Boerwinkle E, Rao DC, Cooper RS, Risch N, Zhu X. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet. 2015 Feb; 8(1):106-13.
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  20. Risch N, Hoffmann TJ, Anderson M, Croen LA, Grether JK, Windham GC. Familial recurrence of autism spectrum disorder: evaluating genetic and environmental contributions. Am J Psychiatry. 2014 Nov 01; 171(11):1206-13.
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