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.
Learn more about Gaucher disease treatments and symptoms by clicking below.
Join us in commemorating Awareness Month and learn how you can help others just by sharing information about Gaucher. More information
Gaucher disease can affect anyone - Even you!
Unfortunately, all too often people who have Gaucher disease or are carriers are misdiagnosed and undiagnosed. Left untreated, those who need therapy may suffer irreparable damage.
You can make a difference in the lives of those affected by Gaucher and help them to get the assistance they need and deserve. During Awareness month, you can pass along Gaucher information and/or submit an Awareness project, video, or “selfie” to the NGF for its online event which runs from August 15 through the end of October.
National Gaucher Foundation, Inc.
The NGF Gaucher Network Registry...
the first and only patient-centered Gaucher registry.
The National Gaucher Foundation is proud to announce the NGF Gaucher Network Registry. For the first time, you are in control. You enter your own data, at your own pace. And it's secure, convenient an easy to use. Registration is open NOW!
•National Organization for Rare Diseases (NORD)
The National Organization for Rare Disorders (NORD), a 501(c)3 organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. More
•Synera Patch/Galen US Incorporated
SYNERA® is a technological advance that can help prevent needle stick pain associated with superficial IVs and superficial dermatological procedures. More
•Children’s Gaucher Research Fund
A non-profit organization that raises funds to coordinate and support research aimed at finding a cure for Gaucher disease (Type 2 and Type 3) as well as providing support to families who have children who battle this disease. More
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.