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Einstein Medical Center Philadelphia is offering free Tay-Sachs disease screenings to those of Irish descent until the end of May.
The screenings, which involve a simple blood test, are free to those who are at least 18 years old and have at least three grandparents of Irish descent.
Screenings will take place at the following locations and times:
– Thursday (today), 4-6:00 pm at Einstein Medical Center Montgomery, 559 W Germantown Pike, East Norriton;
– Saturday, April 20, 9:30-11 a.m. at the office of Dr. John L. Sabatini, PC at 301 Oxford Valley Road, suite 905A, Yardley, Pa.; and
– Monday, May 13 from 12:30 pm till 2:30 pm at the IrishCenter of Philadelphia (Commodore Barry Club) at 6815 Emlen Street, Mt. Airy, Pa.
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, according to the Lansdale Reporter.
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.
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