Survey Finds No Awareness of Common Genetic Disease; More than 9 out of 10 Jewish Americans Unaware of Gaucher Disease, Which Can Be Debilitating and Lead to an Untimely Death.

ROCKVILLE, Md. -- The National Gaucher Foundation today announced the results of a survey that found almost no awareness of Gaucher disease by Jewish Americans, the population most affected by the disease. In light of President Bush's proclamation that May is Jewish American Heritage Month, the National Gaucher Foundation is calling on all Jewish Americans to not only celebrate their history, but to also know their genetic heritage through genetic testing.

"Great strides have been made in the awareness of some genetic disorders, but there are still so many Jewish Americans who are unknowingly carriers of common genetic diseases like Gaucher," says Rhonda Buyers, National Gaucher Foundation Executive Director.

The carrier rate for the genetic mutations that cause Gaucher disease may be as high as one in 15 Jewish people of Eastern European ancestry, and one in 100 - 200 of the general population. Gaucher disease occurs equally among males and females, and both parents must carry the mutation for a child to born with the disease. If both parents are carriers, then there is a 1 in 4 chance that their child will have Gaucher disease.

"This survey shows us that not only is just a tiny segment of the Jewish population aware of Gaucher disease, but there may be many people who are symptomatic and unaware that they have the disease," says Buyers. "The good news is that, unlike other genetic conditions, Gaucher disease is treatable and can be diagnosed with the use of a blood test (enzyme assay)."

There are nearly 5,000 genetic diseases known to afflict the world's population. However, in almost every ethnic, racial, or demographic group, certain genetic diseases occur at higher frequencies among their members than in the general population. Such is the case for the Jewish people. The survey also found a general low awareness of many such diseases, including Canavan and Niemann-Pick diseases.

Not only are the Jewish people generally unaware of Gaucher disease, physicians who are likely to see patients with the disease may also not be well informed. In another recent survey(1), four of five hematologists/oncologists (blood specialists) suspected leukemia or lymphoma when presented with the signs and symptoms of Gaucher disease. This discovery may be somewhat understandable when one considers that in the general population, only one in 40,000 - 60,000 people have Gaucher disease. However, among Jewish people of Eastern European (Ashkenazi) descent, one in 450 - 600 people have the disorder.

Gaucher disease occurs at any age, but it is usually most severe in infants. Gaucher disease results from a specific enzyme deficiency in the body, caused by a genetic mutation. Because of this deficiency, substances normally broken down by the enzyme accumulate in cells called macrophages. The macrophages spread to various organs and tissues including the bones, spleen and liver. Symptoms can begin at any time from infancy to adulthood and can result in chronic health issues with the potential of developing irreversible complications such as the need for hip or knee replacements.

The signs and symptoms of Gaucher disease can include one or more of the following: fatigue or tiredness (anemia), unusual bruising and/or bleeding episodes, an enlarged abdomen (large spleen and/or liver) and bone pain. Although Gaucher disease can be devastating in some cases, it can be managed through early diagnosis and treatment, if required. After the enzyme assay test, the diagnosis can be rendered by a knowledgeable physician or by someone who specializes in this disorder. More information on testing can be obtained by visiting the National Gaucher Foundation Web site at www.gaucherdisease.org.

The mission of the National Gaucher Foundation is to find a cure for Gaucher disease by funding vital research programs to meet the ever-increasing needs of patients and families, as well as promote community/physician awareness and education programs. The National Gaucher Foundation offers a variety of services and programs, including regional educational meetings and international conferences, including National Gaucher Disease Awareness Month every September. National Gaucher Disease Awareness Month has been established to educate at-risk individuals of the disorder and their physicians to ensure proper diagnosis and appropriate care.

(The survey was conducted by Cogent Research and was sponsored by the National Gaucher Foundation, Michael-Ann Russell JCC in Miami and Genzyme Corporation.)

(1) "Gaucher Disease Awareness Among Hematologists." Holden Pearmain, 2005.