Neil Risch
Encyclopedia
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
human geneticist
Geneticist
A geneticist is a biologist who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a researcher or lecturer. Some geneticists perform experiments and analyze data to interpret the inheritance of skills. A geneticist is also a Consultant or...
and professor at the University of California, San Francisco
University of California, San Francisco
The University of California, San Francisco is one of the world's leading centers of health sciences research, patient care, and education. UCSF's medical, pharmacy, dentistry, nursing, and graduate schools are among the top health science professional schools in the world...
(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
University of California, San Francisco
The University of California, San Francisco is one of the world's leading centers of health sciences research, patient care, and education. UCSF's medical, pharmacy, dentistry, nursing, and graduate schools are among the top health science professional schools in the world...
.
Known for his work on numerous genetic diseases including torsion dystonia
Torsion dystonia
Torsion dystonia is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a...
, Risch emphasizes the links between population genetics
Population genetics
Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
and clinical application, believing that understanding human population history and disease susceptibility go hand in hand.
Risch opposes claims that heterozygote advantage
Heterozygote advantage
A heterozygote advantage describes the case in which the heterozygote genotype has a higher relative fitness than either the homozygote dominant or homozygote recessive genotype. The specific case of heterozygote advantage is due to a single locus known as overdominance...
may account for the carrier frequency of lysosomal storage diseases in Ashkenazi Jews
Ashkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
.
After mapping torsion dystonia by linkage disequilibrium
Linkage disequilibrium
In population genetics, linkage disequilibrium is the non-random association of alleles at two or more loci, not necessarily on the same chromosome. It is also referred to as to as gametic phase disequilibrium , or simply gametic disequilibrium...
(LD) analysis he found it was genetically dominant and was a founder mutation
Founder mutation
In genetics, a founder mutation is a mutation that appears in the DNA of one or more individuals who are founders of a distinct population. Founder mutations initiate with changes that occur in the DNA and can get passed down to other generations....
. Other work has focused on the genetic basis of Parkinson's disease
Parkinson's disease
Parkinson's disease is a degenerative disorder of the central nervous system...
, hemochromatosis, multiple sclerosis
Multiple sclerosis
Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...
, diabetes, autism
Autism
Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
, epilepsy
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...
and hypertension
Hypertension
Hypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...
.
Awards
Risch is the 2004 recipient of the Curt Stern AwardCurt Stern Award
The Curt Stern Award, also known as the Stern Award, honors the memory of Curt Stern as an outstanding and pioneering human geneticist...
from the American Society of Human Genetics
American Society of Human Genetics
The American Society of Human Genetics , founded in 1948, is the primary professional membership organization for specialists in human genetics worldwide. As of 2009, the organization had approximately 8,000 members...
. He has held faculty appointments at Columbia
Columbia University
Columbia University in the City of New York is a private, Ivy League university in Manhattan, New York City. Columbia is the oldest institution of higher learning in the state of New York, the fifth oldest in the United States, and one of the country's nine Colonial Colleges founded before the...
, Yale
Yale University
Yale University is a private, Ivy League university located in New Haven, Connecticut, United States. Founded in 1701 in the Colony of Connecticut, the university is the third-oldest institution of higher education in the United States...
, and Stanford
Stanford University
The Leland Stanford Junior University, commonly referred to as Stanford University or Stanford, is a private research university on an campus located near Palo Alto, California. It is situated in the northwestern Santa Clara Valley on the San Francisco Peninsula, approximately northwest of San...
Universities, and is a graduate of the biomathematics program at the University of California at Los Angeles.
He has been described as “the statistical geneticist of our time”