Gaucher Disease

Gaucher Disease is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD), with an incidence of about 1 in 20,000 live births. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. It is also the most common genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry), with a carrier frequency of 1 in 10 (Dr. John Barranger and Dr. Ed Ginns 1989). This panethnic disease involves many organ systems, such as liver, spleen, lungs, brain, metabolism and bone marrow.

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. Testing, through a simple blood test, is available to identify potential parents who are carriers of the gene and to accurately diagnose those people who have the disease. Fortunately, effective treatments are available for some variants of the Disease. Learn more about Gaucher Disease by clicking on a link below:

Prevalence | Symptoms | Testing | Treatments | Clinical Course

Who we are

The National Gaucher Foundation (NGF), a non-profit organization established in 1984, has funded millions of dollars toward the cause, treatments and cure for Gaucher Disease. We are an objective, independent voice of the Gaucher community, dedicated to providing leadership, outreach and innovative thinking. We offer a wide range of programs and resources to meet the ever-increasing needs of individuals and families affected by this disease.

What we do

The NGF funds research, grants financial assistance, promotes education and awareness, supports legislation and provides vital programs. Through our National Gaucher Care Foundation, the CARE Program and the Care+Plus Program, we extend critical financial assistance to individuals with Gaucher Disease. Supporting medical and lay-community outreach, we host live Webinars, national conferences and patient forums. Additionally, our national and regional marketing programs promote ongoing awareness of Gaucher disease.

For more information, contact ngf@gaucherdisease.org or call
800-504-3189