Headed by Dr. Barry E. Rosenbloom, a partner in the Tower Cancer Research Foundation, the Gaucher Foundation was created to help those inflicted with a very specific and rare genetic disorder called Gaucher Disease.
Gaucher Disease (pronounced ‘go-shay’) is a genetic disease found mainly in Ashkenazy Jews. The disorder is caused by a defective gene, which prevents the body from producing an important enzyme called glucocerebrosidase. When the body produces too little of this enzyme, it cannot break down a fatty substance inside cells. |
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These “Gaucher” cells, laden with undigested fatty material, then begin to accumulate in vital organs such as the spleen, liver and bone marrow. The accumulated cells enlarge organs and prevent them from functioning properly.
While ongoing support is always needed, the pharmaceutical company called “Genzyme” funds the research through a grant.
For more information, click on this link to go directly to the Gaucher Foundation website. |
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