Disease

Incidence and inheritance of Gaucher diseaseAs a result of research, development and years of education and outreach, there are thousands of people who have been diagnosed with Gaucher disease. It is the most prevalent Lysosomal Storage Disorder (LSD) in the world and is present in approximately 1 in 20,000 live births.

These are a group of disorders that affect specific enzymes which normally break down materials for reuse in the cells. If the enzymes are missing or don't work properly the materials can build up and become toxic.

Although Gaucher disease can affect anyone, Gaucher disease type 1 is the most common inherited Jewish genetic disease affecting Jews of Ashkenazic descent. Approximately 1 in 450 have Gaucher and 1 in 10 are carriers.

Since Gaucher disease is an autosomal recessive disorder, both parents must carry the Gaucher gene in order to pass it on to their children. It is imperative that we become better educated about Gaucher disease, especially if there is a family history. Presently, there is no cure for Gaucher disease, however there are a number of treatments available, including palliative care. Course of treatment is determined by a Gaucher specialist.