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Tay-Sachs Disease

  • A new focus on screening Irish descendants for the gene that causes Tay-Sachs disease

    Fatal to Children Before Five Years of Age

    Tay-Sachs disease is a fatal neurodegenerative disease that can be passed on to children when both parents are carriers of an altered gene.

    • Babies born with Tay-Sachs disease appear normal at birth.
    • At four to six months of age, symptoms of the disease begin to appear when infants start to lose previously attained skills, such as sitting up or rolling over.
    • Children then gradually lose their sight, hearing and swallowing abilities
    • Children with Tay-Sachs disease usually die by the age of five.

    Screening a New Population

    Due to its large presence among Ashkenazi Jews, it was thought that Tay-Sachs was a Jewish genetic disorder. However, cases of the disease have been identified in the Irish population in Philadelphia over the last few years.

    Philadelphia magazine Top Doc Dr. Adele Schneider, Director of Clinical Genetics at Einstein Medical Center Philadelphia, is conducting a study to determine the carrier rate among people of Irish descent.

    • This study is the only one done in the Irish population since DNA testing for the gene mutation has been available.
    • It aims to screen 1,000 people.
    • Funding for the study is provided by the Albert Einstein Society and the National Tay-Sachs & Allied Diseases Association of Delaware Valley.

    If the carrier rate is determined to be high, large–scale screening initiatives - like those conducted through the Victor Center for the Prevention of Jewish Genetic Diseases at Einstein and other facilities throughout the country - could identify carriers before they pass on the Tay-Sachs gene.

    How to Get Screened

    For more information about the study, including upcoming free screenings*, contact:
    Amybeth Weaver, MS, CGC

    *To be eligible for a screening - which involves a simple blood test and are free to those who participate - you must be at least 18 years of age and have at least three grandparents of Irish descent.

    Click here to see the dates of upcoming Tay-Sachs disease screenings.

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    Accreditation & Partnerships

    Victor Center Philadelphia

    The Victor Center for Jewish Genetic Diseases

    Related Podcasts

    Irish Tay-Sachs Disease
    Tay-Sachs Disease is a neurodegenerative disease that causes nerves to stop functioning and shortens the life span of affected children to five years or less. Our physicians discuss how the mutation occurs in certain populations and why people of Irish descent should be screened before having children.
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