Neil Risch

Neil Risch is an American human geneticist and professor at the University of California, San Francisco (UCSF). Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics and Director of the Institute for Human Genetics and Professor of Epidemiology and Biostatistics at UCSF.

Known for his work on numerous genetic diseases including torsion dystonia, Risch emphasizes the links between population genetics and clinical application, believing that understanding human population history and disease susceptibility go hand in hand.[1]

He was cited by professor Bryan Sykes in Adam's Curse: A Future Without Men[2]


Population geneticsEdit

Risch has conducted significant work on the nature of human differences on a geographical scale. For instance, he used social and genetic data to analyse genetic admixture from White, African, and Native American ancestry in Puerto-Rico, as well as relating this to geographical variation in social status.[3]

Risch considers that genetic drift is a more compelling explanation for the carrier frequency of lysosomal storage diseases in Ashkenazi Jews than heterozygote advantage, in light of analysis of the results of recent genetic testing by his collaborators and himself.[4]

After mapping torsion dystonia by linkage disequilibrium (LD) analysis he found it was genetically dominant and was a founder mutation. Other work has focused on the genetic basis of Parkinson's disease, hemochromatosis, multiple sclerosis, diabetes, autism, epilepsy and hypertension.

Group structureEdit

Risch has worked on the genetic structure of human groups, for instance multiple levels of structure above the level of the individual increasing in scale up to the level of race. He has translated these results into theoretical impacts on, for instance, rate of decay of linkage disequilibrium, and practical application in personalised medicine. For instance, using the Framingham data, he showed that population stratification leads not only to a fewer heterozygotes than predicted from Hardy-Weinberg Equilibrium but also to spouses sharing identical genotypes at all ancestrally informative markers, accounted for by ancestry-related assortative mating in the previous generation.[5]

Psychiatric diseaseEdit

In a small twin study on Autism (around 50 twin pairs for each disease and zygosity), he argued these disorders may be less heritable than previously considered, implicating a significant family-level environment effect.[6]


Risch has been a prominent critic of studies on the role of genetics in sexual orientation. In 1999, he published a small sib-pair study that failed to replicate a previously observed linkage [7] between male sexual orientation and Xq28 DNA markers.[8] However, an independent study of a larger, carefully selected sample later verified the Xq28 link, which mapped to the same location found in the original study.[9] The reason that Risch's study failed to find linkage is unknown, but he continued to criticize this area of research in his 2015 ASHG Presidential Address [10] which some scientists found offensive.[11]


Risch is the 2004 recipient of the Curt Stern Award from the American Society of Human Genetics. He has held faculty appointments at Columbia, Yale, and Stanford Universities, and is a graduate of the biomathematics program at the University of California at Los Angeles.[12] He has been described as “the statistical geneticist of our time”[13]


  1. ^ Risch et al. 2002
  2. ^ Adam's Curse: A Future Without Men<
  3. ^ Via, Marc; Gignoux, Christopher R.; Roth, Lindsey A.; Fejerman, Laura; Galanter, Joshua; Choudhry, Shweta; Toro-Labrador, Gladys; Viera-Vera, Jorge; Oleksyk, Taras K.; Beckman, Kenneth; Ziv, Elad; Risch, Neil; Burchard, Esteban González; Martínez-Cruzado, Juan Carlos (2011). "History Shaped the Geographic Distribution of Genomic Admixture on the Island of Puerto Rico". PLOS ONE. 6 (1): e16513. Bibcode:2011PLoSO...616513V. doi:10.1371/journal.pone.0016513. PMC 3031579. PMID 21304981.
  4. ^ Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
  5. ^ R. Sebro, T. J. Hoffman, C. Lange, J. J. Rogus and N. J. Risch. (2010). Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study. Genet Epidemiol, 34, 674-9
  6. ^ J. Hallmayer, S. Cleveland, A. Torres, J. Phillips, B. Cohen, T. Torigoe, J. Miller, A. Fedele, J. Collins, K. Smith, L. Lotspeich, L. A. Croen, S. Ozonoff, C. Lajonchere, J. K. Grether and N. Risch. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry, 68, 1095-102
  7. ^ Hamer, D.; Hu, S; Magnuson, V.; Hu, N; Pattatucci, A. (1993). "A linkage between DNA markers on the X chromosome and male sexual orientation". Science. 261 (5119): 321–7. Bibcode:1993Sci...261..321H. doi:10.1126/science.8332896. PMID 8332896.
  8. ^ Rice G, Anderson C, Risch N, Ebers G (April 1999). "Male homosexuality: absence of linkage to microsatellite markers at Xq28". Science. 284 (5414): 665–7. Bibcode:1999Sci...284..665R. doi:10.1126/science.284.5414.665. PMID 10213693.
  9. ^ Sanders, A. R.; Martin, E. R.; Beecham, G. W.; Guo, S; Dawood, K; Rieger, G; Badner, J. A.; Gershon, E. S.; Krishnappa, R. S.; Kolundzija, A. B.; Duan, J; Gejman, P. V.; Bailey, J. M. (2015). "Genome-wide scan demonstrates significant linkage for male sexual orientation". Psychological Medicine. 45 (7): 1379–88. doi:10.1017/S0033291714002451. PMID 25399360.
  10. ^ "ASHG 2015 Annual Meeting".
  11. ^ "The Science of Denial". 2015-10-22.
  12. ^ Rosenberg, Leon E. (Feb 2005). "Introductory Speech for Neil Risch". American Journal of Human Genetics. 76 (2): 219–220. doi:10.1086/427522. PMC 1196366. PMID 15714697.
  13. ^ Gitschier, Jane (25 July 2005). "The Whole Side of It—An Interview with Neil Risch". PLoS Genetics. 1 (1): 15–16. doi:10.1371/journal.pgen.0010014. PMC 1183530. PMID 17411332.

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