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- Birmingham Children's Hospital Family Rare Disease Day25-01-2016
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- About Us
- About Gaucher
Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder. It is caused by deficiency of a specific enzyme in the body, caused by a genetic mutation received from both parents.
The Association encourages and promotes scientific and medical research into Gaucher disease. Our aim is to improve therapeutic approaches and to ensure all such recognises the centrality of the Gaucher patient.