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  • Screening for Tay-Sachs disease might become recommended for Irish Americans

    Published: 11/15/2012


    Screening for Tay-Sachs disease might become recommended for Irish Americans

    The number of babies born with Tay-Sachs in the United States has fallen dramatically since the 1970s, when Jews began to be screened for the defective gene that causes the rare neurological disorder.

    Now, Einstein Medical Center in North Philadelphia is leading a study to determine whether carrier screening should be recommended for another ethnic group - Irish Americans.

    Carriers of the Tay-Sachs gene are healthy, but the offspring of two carriers have a 25 percent chance of inheriting two bad genes and thus the disease, which is usually fatal by age 5.

    Limited evidence in medical literature suggests that Americans of Irish descent have an elevated carrier frequency, but estimates vary wildly. A 1992 study in Chicago found more Tay-Sachs genes in Irish Catholic spouses of Jews than in the Jews themselves.

    Adele Schneider, Einstein's director of clinical genetics, decided to do a large enough study - testing 1,000 adults who have at least three Irish grandparents - to make a reliable carrier estimate. The poignant catalyst: In the last five years, she has seen three Philadelphia-area tots of Irish descent with Tay-Sachs.

    Of the three, only Nathan Harney, 2, of Downingtown, is alive.

    His parents, Kathryn and Aaron Harney, had never heard of Tay-Sachs until their blue-eyed baby was found to have it. Like other Tay-Sachs babies, he appeared healthy in his early months. Then, because his broken gene could not make a vital enzyme, toxic waste began building up in his brain and spinal cord.

    Nathan can no longer swallow, is partly paralyzed, and needs oxygen and seizure medication.

    "People we told who knew about Tay-Sachs thought it was a Jewish genetic disease," Kathryn Harney recalled. "A lot of doctors we talked to thought it was a Jewish disease."

    (Read the whole story by Marie McCullough on Philly.com here.)

  • Communications Team