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Local Hospital Group Studying Risk of Tay-Sachs Among The Irish

(Tay-Sachs is a hereditary disease in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death.)

(Tay-Sachs is a hereditary disease in which an enzyme deficiency leads to the accumulation of gangliosides in the brain and nerve tissue, resulting in mental retardation, convulsions, blindness, and, ultimately, death.)

Mike DeNardo Mike DeNardo
Mike DeNardo, a veteran of KYW Newsradio for more than 25 years,...
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By Mike DeNardo

PHILADELPHIA (CBS) — Tay-Sachs Disease is widely known as a genetic disorder among Jews.  But a new study is exploring the risk in another group: the Irish.

Genetic testing is routine for potential parents of Jewish descent to identify the children’s risk for Tay-Sachs Disease, a rare but fatal disorder that often kills children before their fifth birthday.

But after three recent cases of Tay-Sachs turned up in the Irish population in the Philadelphia area, it got Einstein Medical Center‘s director of clinical genetics, Dr. Adele Schneider, wondering.

“It raised the question to me, what is the carrier rate for Tay-Sachs in the Irish population?  Because we always test Jewish people for it, and never test the Irish,” she said.

Now, Einstein is launching a program to screen 1,000 people with at least three of four Irish grandparents, to try to quantify the risk for Tay-Sachs.

The free blood tests begin tomorrow in Philadelphia.  Schneider says the screenings will expand to Boston and New York over the next two years.

For more information go to tay-sachs.org or call 484-636-4197.

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