Neil Risch

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]

Population genetics

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 [2]

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.[3]

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 structure

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.[4]

Psychiatric disease

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.[5]

Awards

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.[6] He has been described as “the statistical geneticist of our time”[7]

References

  1. ↑ Risch et al. 2002
  2. ↑ M. Via, C. R. Gignoux, L. A. Roth, L. Fejerman, J. Galanter, S. Choudhry, G. Toro-Labrador, J. Viera-Vera, T. K. Oleksyk, K. Beckman, E. Ziv, N. Risch, E. G. Burchard and J. C. Martinez-Cruzado. (2011). History shaped the geographic distribution of genomic admixture on the island of Puerto Rico. PLoS One, 6, e16513
  3. ↑ 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.
  4. ↑ 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
  5. ↑ 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
  6. ↑ 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.
  7. ↑ 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. PMID 17411332.

External links

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