Chapter 7: Information Sources

Section 3: Specific Disabilities – Information Sources

Subsection: Gaucher’s Disease

National Gaucher Foundation

The National Gaucher Foundation (NGF) is a non-profit, tax exempt organization dedicated to supporting and promoting research into the causes of, and a cure for Gaucher Disease.

Gaucher Disease is the most common lipid-storage disorder, and is the most common genetic disease affecting Jewish people of Eastern European ancestry. Gaucher Disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death.

Fortunately, testing is available to identify potential parents who are carriers of the gene and to accurately diagnose those people who have the disease. And even more fortunately, an effective enzyme replacement therapy is available for one of the variants of the disease.

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