Sunday, April 21, 2024

What is Tay-Sachs?

Temple Beth El in Boca hosted an event this weekend—“Sweetness and Laughter”—benefiting the Mathew Forbes Romer Foundation, which launched in 1998. The foundation, which raises awareness and funds regarding genetic disorders of the brain in children, is named after a young boy who died in 2003 after an eight-year battle with Tay-Sachs disease.

What is Tay-Sachs? Tay-Sachs is an inherited disorder passed on when two parents carry the genetic trait, chromosome 15. The disease is caused by mutations in the HEXA gene and destroys nerve cells in the brain as well as the spinal cord. When both parents carry the gene, the couple has a 25-percent chance of conceiving a child with Tay-Sachs. To date, there is no cure—and most children afflicted with Tay-Sachs die before age 4.

The mission: The foundation promotes critical awareness, testing, counseling, and research initiatives that hold promise for the prevention and eventual cure of this fatal genetic disease. By educating the public on the risks of Tay-Sachs, those involved with the organization hope that more parents will get tested prior to conceiving. To date, the foundation has raised more than $2 million in funding—donations that have led, this year, to the beginning of clinical trials for a treatment.

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