Einstein Medical Center Philadelphia is offering free Tay-Sachs disease screenings to those of Irish descent. The screenings, which involve a simple blood test, are free to those who participate. To be eligible, participants must be at least 18 years of age and have at least three grandparents of Irish descent.
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 and symptoms of the disease do not appear until the infants are about four to six months of age when they begin to lose previously attained skills, such as sitting up or rolling over. Children then gradually lose their sight, hearing, and swallowing abilities. These children usually die by the age of five.
In the past, Tay-Sachs was often thought of as a Jewish genetic disorder due to its large presence among Ashkenazi Jews. But, cases of Tay-Sachs have been identified in the Irish population in Philadelphia over the last few years. That’s why Dr. Adele Schneider, Director of Clinical Genetics at Einstein Medical Center Philadelphia, and her team at Einstein are conducting a study to find out just how high the carrier rate is among people of Irish descent. The study, the only one done in the Irish population since DNA testing for the gene mutation has been available, aims to screen 1,000 people and is funded by the Albert Einstein Society and the National Tay-Sachs & Allied Diseases Association of Delaware Valley.
If the carrier rate turns out to be high, then 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.
The screenings will take place on Sunday, September 7 at the annual Irish Festival at Central Field, Pearl River New York from 11:00am to 2:00pm.
For more information contact Amybeth Weaver, MS, CGC at 484-636-4197> or [email protected]