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Cystinosis is a rare, genetic, metabolic, lysosomal storage disease that causes an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain.
The cystine accumulation causes widespread tissue and organ damage. Cystine accumulation can lead to kidney failure, muscle wasting, swallowing difficulty, diabetes, hypothyroidism, cerebral atrophy, photophobia, blindness, corneal ulceration, ventilatory impairment, and more. Without treatment, children with cystinosis will usually develop end stage kidney failure and die prematurely.
Learn More About UsAccess virtual conference videos from medical experts, the cystinosis community and more on our YouTube channel.
Watch HereThe CRN provides the latest updates on research and treatment advancements, funds research grants and provides best clinical practices resources.
See Support & ResourcesAVROBIO is looking for perspectives from the cystinosis community. They will be conducting a small focus...
Learn MoreThe Dicks Family sat down for a candid conversation with Daniel Levine from Global Genes....
Learn MoreDaily life with cystinosis can present challenges. There are resources to help you along the way.
Learn MoreTeams of medical experts are researching every aspect of cystinosis with the purpose of understanding our disease, finding improved treatments and a cure.
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