A new study to identify why Irish people carry the gene for the fatal degenerative brain disease Tay-Sachs is being conducted in Philadelphia.
Tay-Sachs is a rare neurodegenerative genetic disease that causes a progressive deterioration of mental and physical abilities. Babies born with the disease appear healthy at birth before they develop symptoms, usually at around six months of age. Children with Tay-Sachs disease usually die by age five.
Anyone can be a carrier of Tay-Sachs, but the disease is most common among the Ashkenazi Jewish population.
According to the website Tay-sachs.org, individuals with ancestors from Ireland are at increased risk for the Tay-Sachs gene. Current research indicates that among Irish Americans, the carrier rate is about one in 50. A child must receive two copies of the defective gene, one from each parent, in order to become sick.
Researchers at Einstein Medical Center's Genetics Division in Philadelphia are conducting a study to determine an accurate carrier rate for Tay-Sachs disease in the Irish population and to also identify the most common gene changes within this group.
If you have at least three Irish grandparents and are 18 years or older, you may be eligible to receive carrier screening for Tay-Sachs disease at no cost.
For more information about Tay-Sachs disease carrier screening or to participate in this study, contact Amybeth Weaver, MS, CGC at [email protected] or call 215-887-0877.
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