Gaucher disease (Gaucher's disease)
Gaucher, also referred to as Gaucher's is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD) and is present in approximately 1 in 20,000 live births. Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the 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.
Gaucher type 1, the most common form of the disease, may present with chronic fatigue, easy bruising and bleeding, bone involvement due to bone infarctions or pathological fractures due to osteopenia. The neuronopathic forms of Gaucher are types 2 and 3 and are the rarest.
Although Gaucher is pan-ethnic, Gaucher disease type 1 is the most common inherited Jewish genetic disease affecting Ashkenazi Jewish people (Eastern, Central and Northern European ancestry). Approximately 1 in 450 have Gaucher and 1 in 10 are carriers.
Treatments and drug choices for Gaucher disease types 1 and 3 may vary depending on the severity of each patient's disease and the course of treatment your physician determines.
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The National Gaucher Foundation, Inc
We are the only independent, non-profit organization of its kind serving the Gaucher community in the US. Founded in 1984, the NGF funded millions of research dollars toward the cause, treatments and cure for Gaucher disease. We are an objective, independent voice of the Gaucher community, providing leadership, outreach and innovative thinking. The number of families and individuals affected by Gaucher are ever increasing, requiring extensive programs and services.
The NGF provides help by granting financial assistance and supporting legislation for Gaucher and other rare diseases. We host meetings, conferences and outreach events and supply marketing programs designed to promote awareness of Gaucher disease. Additionally, we provide a Mentor program, educational videos, brochures, exercise tips, and many other services and resources.
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