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Get Tested For Gaucher Disease

JScreen, the national nonprofit community-based public health initiative dedicated to education and carrier screening for Jewish and other genetic diseases, has joined with the National Gaucher Foundation (NGF) to mark National Gaucher Awareness Month during October.

Gaucher (pronounced go-SHAY) disease is one of more than 200 diseases for which JScreen tests with its easy-to-use at-home saliva sample kit. The condition affects up to 1 in 40,000 live births in the general population. Gaucher is much more common in people with Ashkenazi Jewish background, affecting up to 1 in 450 individuals.

Unlike many other genetic diseases, treatment is available when medically necessary.

“We work very closely with the National Gaucher Foundation (NGF) to raise awareness and encourage screening, particularly of young adults who may be thinking of having children soon,” said Karen Arnovitz Grinzaid, JScreen executive director.

Gaucher disease results from the body not having enough gluco-crebrosidase (GCase), an important enzyme that breaks down a fatty substance called glucocerebroside. Because the body cannot break down this substance, fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow and can cause low blood counts, bleeding, bruising, fatigue, enlarged spleen and liver, and bone problems.

During October, JScreen, in partnership with the NGF, will encourage screening for individuals and couples planning to start or grow their families.

“It’s important to be screened so people know whether or not they are a carrier and how this might impact their children,” says Amy Blum, COO of the National Gaucher Foundation. “The NGF is very grateful for its partnership with JScreen and being able to offer screening. More than 1,500 individuals have already been screened through this joint initiative.”

For details, go to jscreen.org.   

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