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]

Risch opposes claims that heterozygote advantage may account for the carrier frequency of lysosomal storage diseases in Ashkenazi Jews.^[2]

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.

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.^[3] He has been described as “the statistical geneticist of our time”^[4]

References

1. ^ Risch et al. 2002
2. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180346. 
3. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1196366. 
4. ^ Gitschier, Jane (July 25 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. http://genetics.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pgen.0010014. 

External links

• UCSF website homepage

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