NATIONAL TAY-SACHS & ALLIED DISEASES Association of Delaware Valley

Irish Tay-Sachs Carrier Study

Are you of Irish descent? Are you aware you may be a carrier for Tay-Sachs Disease?

If you have at least 3 Irish grandparents and are 18 years or older, you may be eligible to receive carrier screening for Tay-Sachs disease at no cost to you.

What is Tay-Sachs disease?
Babies born with this devastating neurodegenerative disease appear healthy at birth and seem to develop normally for a few months.
Symptoms begin to appear at six months of age when babies begin to suffer from problems in the brain and nervous system and lose skills. Children with Tay-Sachs disease usually die by age five.

Tay-Sachs is an inherited disease that only occurs when both parents carry a Tay-Sachs gene and each parent transmits the altered gene to their child. Carriers show no outward sign and can only be identified through carrier screening which requires a blood test. Without carrier screening, it can remain hidden in a family for decades, surfacing unexpectedly and tragically with the birth of an affected child.

When both parents are carriers, there is a 1 in 4 (25%) risk of having an affected child with each pregnancy. This is called autosomal recessive inheritance.

How can I help?
There is a higher carrier rate for Tay-Sachs disease in people with Irish ancestry, but no exact risk number has been determined.
Researchers at Einstein Medical Center's Genetics Division are conducting a study to determine an accurate carrier rate for Tay-Sachs disease in the Irish population and to also identify the most common gene changes within this group.

Participation in this study will help protect future generations of Irish families from the tragedy of Tay-Sachs disease. Your participation will also provide you with valuable information about your own carrier status so that you can make informed decisions for a healthy family.

At no cost to you, this study will provide you with your carrier status for Tay-Sachs disease and genetic counseling to explain your results and answer your questions. One simple blood test is all that is needed to participate!

Contact us now: For more information about Tay-Sachs disease carrier screening or to participate in this study, contact Amybeth Weaver, MS, CGC at irish@tay-sachs.org or call 215-887-0877.

This study is funded through the generous support of National Tay-Sachs & Allied Diseases Association of Delaware Valley (NTSAD-DV). NTSAD-DV is dedicated to the prevention and eventual elimination of Tay-Sachs, Canavan and the allied diseases through education, awareness and prevention through carrier screening.

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