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:
The National Gaucher Foundation (NGF) was established in 1984 as a non-profit, tax exempt organization dedicated to supporting and promoting research towards the cause, treatments and a cure for Gaucher Disease. Our mission has expanded to promote education and awareness, fund financial programs vital to the Gaucher community and to meet the ever-increasing needs of individuals with Gaucher disease and their families.
The NGF offers financial assistance programs and a wide-range of resources for the benefit of the Gaucher community. In an effort to promote community/physician awareness and educational programs, the NGF holds live Web meetings, conferences, patient meetings and seminars, publishes a quarterly newsletter and has both national and regional marketing programs.
The NGF offers a variety of services and programs including regional chapter meetings, patient support groups, international conferences, as well as the CARE Program and the Care+Plus Program which provide critical financial assistance to individuals with Gaucher Disease. The NGF also publishes a quarterly newsletter featuring informative columns about exercise, medical questions, personal stories and research updates.
National Gaucher Foundation is a member of Independent Charities Of America
National Gaucher Foundation has received the coveted four-star rating from Charity Navigator for 2007.
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