Free Tay-Sachs Disease Screenings for Irish at Irish Fest Boston June 5

Posted by Perspectives Blog Team on May 19, 2016 11:52:20 AM

amybeth_weaver_350.jpgEinstein Medical Center Philadelphia is offering free Tay-Sachs disease screenings to those of Irish descent Sunday, June 5 at Irish Fest Boston—a two-day festival (starting June 4) of Irish art and culture. The festival is being held at the Irish Cultural Centre of New England, 200 New Boston Drive in Canton, Mass.

(Amybeth Weaver, Einstein genetic counselor, right)

The screenings, which will be held from 1 to 3 p.m., involve a simple blood test. To be eligible, participants must be at least 18 years of age and have at least three grandparents of Irish descent. (You can sign up ahead of time for this screening by going online to, sending an email to, or by phone at 484-636-4197.)

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 6 to 6 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 5.

In the past, Tay-Sachs was often thought of as a Jewish genetic disorder due to its large presence among Ashkenazi Jews. However, cases of Tay-Sachs have been identified in the Irish population right here 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.

Learn more. Read: Nathan's Legacy: Raising Tay-Sachs Awareness Among People of Irish Heritage.


Topics: Genetic Testing, Tay-Sachs

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Perspectives highlights the expertise and services provided by the physicians, specialists, nurses and other healthcare providers at Einstein Healthcare Network. Through this blog, we share information about new treatments and technologies, top-tier clinical teams and the day-to-day interactions that reinforce our commitment to delivering quality care with compassion. Here, you will also find practical advice for championing your health and wellness.

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