Philadelphia center offers free testing for Irish fatal neurodegenerative disease Tay-Sachs - VIDEO
Screening of 1,000 Irish for genetic mutation to prevent deadly infantile disease
A Philadelphia medical center is offering free tests for a fatal neurodegenerative disease among those of Irish descent. The blood test will screen those of Irish heritage for the fatal neurodegenerative disease that can be passed on to children when both parents are carriers of an altered gene.
The Einstein Medical Center Philadelphia is offering free Tay-Sachs disease screenings to those of Irish descent in March, April and May.
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 right in and around Philadelphia over the last few years.
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.
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.
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.
Screenings will take place at the following locations and times:
• Thursday, March 28 from 4:00 pm till 6:00 pm at Einstein Medical Center Montgomery, 559 W Germantown Pike, East Norriton, PA 19403
• Saturday, April 20 from 9:30 am till 11:30 am at the practice of Dr. John L. Sabatini, PC at 301 Oxford Valley Road, suite 905A, Yardley, Pa
• Monday, May 13 from 12:30 pm till 2:30 pm at the Irish Center of Philadelphia (Commodore Barry Club) at 6815 Emlen Street, Mt. Airy, Pa
Here’s a video from the The Einstein Medical Center Philadelphia on Tay-Sachs disease:
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