Welcome to theCystinosis Research Network

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.

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2021 Summer Conference

Access virtual conference videos from medical experts, the cystinosis community and more on our YouTube channel.

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Health Care Professionals

The CRN provides the latest updates on research and treatment advancements, funds research grants and provides best clinical practices resources.

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News

New

Participants Requested: Cystinosis & the Brain Study

Cystinosis researcher, Ana Francisco and her team at Montefiore Medical Center/Einstein College of...

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New

AVROBIO Cystinosis Focus Group

AVROBIO is looking for perspectives from the cystinosis community. They will be conducting a small focus...

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Resources

Newly Diagnosed

You’ve received a diagnosis. Now what?

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Education

Daily life with cystinosis can present challenges. There are resources to help you along the way.

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Research Developments

Teams 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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