Cystinosis is an exceptionally rare condition characterised by the crystallisation of the amino acid cystine in various body organs and muscles. Cystinosis is an inherited disease occurring in about 1 in 200,000 births within developed countries.
With better understanding, earlier diagnosis and improved treatments, people with cystinosis are able to lead a long, full life. It is the Foundation's aim to strive for continued improvements, by informing and sharing across researchers and the cystinosis community.