National Institutes of Health
- The primary NIH organization for research on Gaucher's Disease is the National Institute of Neurological Disorders and Stroke
Gaucher's disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.
There are three types:
Gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
NIH: National Institute of Neurological Disorders and Stroke
References and abstracts from MEDLINE/PubMed (National Library of Medicine)