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Researchers study ethnic groups to understand genetic component of diseases

November 4, 2014

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There are a number of diseases that are uniquely prevalent among distinct ethnic groups. By studying these populations, scientists learn more about human diseases and the effect the human genome plays in the development of certain medical conditions. This research furthers the understanding of human genetics and provides an opportunity to better diagnose and treat diseases that affect either distinct groups or the overall population.

An example of such a group is Ashkenazi Jews. According to the Center for Jewish Genetics, this population is heavily impacted by 19 separate genetic diseases. One international team of researchers, led by the Columbia University School of Engineering and Applied Science, formed The Ashkenazi Genome Consortium (TAGC) to focus on the genetic profiles of Ashkenazi Jews. Since September 2011, the TAGC made several important discoveries about the diseases and ancestral history of this population, as reported in the journal Nature Communications.

"TAGC advances the goal of bringing personal genomics to the clinic, as it tells the physician whether a mutation in a patient's genome is shared by healthy individuals, and can alleviate concerns that it is causing disease," Todd Lencz, an investigator at The Feinstein Institute for Medical Research, said in a statement. Without our work, a patient's genome sequence is much harder to interpret, and more prone to create false alarms. We have eliminated two-thirds of these false alarms."

Demographics and genetic isolation help
In addition to learning more about illnesses that affect the Ashkenazi Jews, TAGC is learning a great deal about their ancestry. Specifically, they learned that the original Ashkenazi Jews were the result of unions between Europeans and people from the Middle East, with each side contributing equally to the genetic pool. Anthropologically, this adds to scientists' understanding of the migration of prehistoric humans. However, the researchers at TAGC want to conduct further investigations into a more precise estimation into when these two populations mixed.

Additionally, TAGC wants to continue their research to learn about other diseases linked to Ashkenazi Jewish ancestry, such as diabetes, Crohn's disease, Parkinson's disease and cancer. Longevity will be another point of interest.

Lencz and his colleagues pointed out that Ashkenazi Jews are an ideal population to study in this way because of their genetic isolation and demographics within the U.S.

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