National Gaucher Foundation Hosts 'September Summit' of Jewish Community and Healthcare Leaders to Fight Jewish Genetic Disease; Call to Action During 20th Anniversary of National Gaucher Awareness Month.

NEW YORK -- In response to alarming new data that only six percent of the American Jewish population is aware of Gaucher (Pronounced "Go-shay") disease -- the most common Jewish genetic disease - the National Gaucher Foundation (NGF) today kicked-off the National Gaucher Awareness Month with the "September Summit" at the Manhattan Jewish Community Center. This summit will be one of the largest meetings open to Jewish Community Leaders and healthcare professionals to focus on the importance of genetic screening and Gaucher disease.

A recent survey conducted found that 9 out of 10 Jewish Americans are unaware of Gaucher disease. The primary goal of the "September Summit" is to build awareness by providing key opinion and community leaders with comprehensive and up-to-date information on genetic diseases that affect the Jewish population, including symptoms and treatments of Gaucher disease, and to make available to all attendees the tools to generate awareness in the communities that they represent.

"We must have a nationwide dialog about Gaucher disease because early diagnosis saves lives," says Rhonda Buyers, National Gaucher Foundation Executive Director. "The September Summit is bringing together respected and revered members of the Jewish community to have a candid and long overdue group discussion about the importance of genetic testing and education for everyone of every denomination."

To ensure that all who want to attend the meeting are able to, the NGF will also be hosting the meeting online and will post the dial-in information on their website at www.gaucherdisease.org.

One of the problems with identifying Gaucher is that warning signs can often be mistaken for many other diseases and disorders. Signs and symptoms of Gaucher disease can begin at any age and include fatigue, easily fractured bones, bone pain, enlarged abdomen and spleen, easy bruising or bleeding and anemia. There are treatments for Gaucher disease and it can be diagnosed with the use of a blood test (enzyme assay).

More common than Tay-Sachs disease, one in 15 Ashkenazi Jews are carriers of the Gaucher gene, while one in 450 are affected by the disease. Gaucher disease occurs equally among males and females, and both parents must carry the mutation for a child to be born with the disease. If both parents are carriers, then there is a one in four chance their child will have Gaucher disease.

To enhance public awareness of Gaucher disease, Congress, by Senate Joint Resolution 352, designated October 19, 1986, as "Gaucher's Disease Awareness Week" and authorized and requested that President Ronald Regan issue a proclamation in observance of that week. Today, Gaucher Awareness has grown to a month of patient meetings and awareness events.

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, the carrier rate for the mutations that cause Gaucher disease may be as high as 1 in 100 of the general population.

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 patient assistance programs, education and awareness programs, 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 and their physicians of the disorder to ensure proper diagnosis and appropriate care.