Welcome to the    University Regional Gaucher and Fabry
Disease Treatment Center

Gaucher Disease (pronounced go-SHAY) can affect people of any ethnic background 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. Many people have never heard of Gaucher Disease and even many physicians are unfamiliar with its symptoms. 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.

Some of the information on this and related pages is from material supplied by the National Gaucher Foundation, the National Association for Jewish Genetic Diseases, Genzyme Corporation, and various subscribers to the Genetic-Disease and Inborn-Errors E-Mail Discussion Lists. Material from copyrighted sources is used with permission. This web site is financially underwritten by the University Gaucher Research Foundation, Inc. through a grant from the Genzyme Corporation.