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.

Learn More About Us

2019 Family Conference

Join us in Philadelphia for a weekend full of support and education. Online registration and agenda are now available.

Visit Event Page

Health Care Professionals

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

See Support & Resources

News

New

Each Year is a Gift by Jenn Loglisci

I do not have one story or just one person I can point out as a #GreatGiver. I am now...

Learn More

New

A Tale of Two Kidneys by Jana Healy

The person I’m most grateful for is my sister Jennifer. Six and a half years ago my labs were off...

Learn More

Resources

Newly Diagnosed

You’ve received a diagnosis. Now what?

Learn More

Education

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

Learn More

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.

Learn More