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Researchers from Einstein Medical Center in Philadelphia will be in Pearl River to offer free blood tests as part of a study to determine how common Tay-Sachs gene is among the Irish.
Genetic screening in the Jewish community has been so successful that the number of babies born with Tay-Sachs disease has plummeted and attention is now focusing on other ethnic groups, like the Irish, where the gene is found.The National Tay-Sachs & Allied Diseases Association will hold a Family Fun Walk in the Central Avenue Field in Pearl River from 10 a.m. to 2 p.m. Sept. 7 to raise awareness in the Irish community.Researchers from Einstein Medical Center in Philadelphia will offer free blood tests for a study to determine how common the gene is among the Irish. People who have at least three grandparents of Irish ancestry are eligible to participate. Participants will be notified of the results.The event honors Danny Kenny, a two-year-old with the disease. His aunt, Kathy Kenny Whitney of Nanuet, is helping to organize it along with Marion Yanovsky of Wesley Hills, co-president of the New York chapter of the National Tay-Sachs & Allied Diseases Association.The group recently honored Yanovsky for her volunteerism. She talks about Tay-Sachs Disease.What is Tay-Sachs disease?Tay-Sachs is caused by a genetic mutation that destroys nerve cells in the brain. Infants with the disorder go blind, lose their hearing, become paralyzed and die before the age of 5.What causes Tay-Sachs disease?The disease is caused by mutations in a gene called hexosaminidase A, or Hex-A. Without the enzyme, a fatty substance accumulates in brain cells and ravages the nervous system.How does someone get Tay-Sachs disease?It is inherited from both parents. A mother and father can carry a copy of the gene but not have the disease. A carrier cannot get the disease, but the child of a mother and father who both are carriers runs a 25 percent chance of inheriting two defective genes and developing Tay-Sachs. Two carriers have a 50 percent chance of having a child who is also a carrier and a 25 percent chance of a child who does not carry the gene.Who is most likely to get Tay-Sachs disease?People of European Jewish ancestry have one chance in 25 of having the gene, while people in the general population run a risk of one in 250.The mutations also more common in certain French-Canadian communities, the Amish and Cajuns. There has also been a new focus on the Irish community. Scientists have estimated that the rate could be as high as one person in 50.Screening and education has greatly reduced the incidence of Tay-Sachs within the Jewish community. We hope the same screening will lead to reductions in the Irish community.How can you tell if you are a carrier of the Tay-Sachs gene?A blood test can determine if you carry the gene. Many obstetricians and clergy members recommend the test for Jewish couples. It is not routinely recommended for others.About the screeningResearchers from Einstein Medical Center in Philadelphia want to screen at least 1,000 people of Irish ancestry for a study to see how common the gene is in that population. To be eligible, participants must be 18 and have at least three grandparents of Irish descent.For more information, contact Amybeth Weaver, at 484-636-4197 or Irish@tay-sachs.org.On the web:Tay-sachs.org