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Refined tools help pinpoint disease-causing genes
Date:4/29/2010

In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the culprits may be numerous rare variants, located in DNA sequences farther away from the original "hot spots" than scientists have been accustomed to look.

Using an approach that detects rare but powerful causal gene variants, the researchers say they have accounted for a significant proportion of the "missing heritability" problem the disappointing fact that, to date, conventional gene-hunting studies have often failed to identify, when searching for gene variants, variants that cause a large proportion of common diseases, such as heart disease, cancers and diabetes.

The new approach draws on existing data from genome-wise association studies (GWAS) that have already been performed, reanalyzing the data to pinpoint causal variants that have not been identified previously.

Furthermore, the technique may allow researchers to identify individuals whose DNA is more likely to carry specific mutations in the causal genes. "Our approach draws us closer to the goal of personalized medicine, in which treatment will be tailored to an individual's genetic profile," said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. "When we can say that a specific gene mutation causes a patient's disease, we have more meaningful diagnostic results. Identifying causal variants in disease genes provides an opportunity to develop drugs to rectify the biological consequences of these mutated genes."

Hakonarson and colleagues, including first author Kai Wang, Ph.D., of Children's Hospital, collaborated with David B. Goldstein, Ph.D., director of the Center for Human Genome Variation at Duke University. The study appears online today in The American
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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

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