Cystinosis Research Foundation Awards $2.4 Million in Research Grants

Spring Awards Fund 10 Scientific Studies in Five Countries, Bringing the Foundation’s Total Research Funding to $29.3 Million Since 2003
IRVINE, Calif. – September 24, 2018 – The Cystinosis Research Foundation, the largest provider of grants for cystinosis research in the world, announced today that it has awarded $2.4 million to date this year in grants to researchers across the globe in an ongoing quest to find improved treatments and a cure for cystinosis.
Cystinosis is a rare, incurable metabolic disorder that afflicts 500 children and young adults in the United States and only 2,000 people worldwide. It slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and brain due to a buildup of the amino acid cystine that crystallizes and kills the cells.
This year’s grants, supported through donations from cystinosis families around the world as well as family and friends at the 2018 Natalie’s Wish fundraising gala, are funding bench, clinical and translational research in the United States, Switzerland, France, Belgium and Italy.
“We are deeply grateful to everyone for their commitment to funding these new and ongoing research projects,” said CRF Founder and President, Nancy Stack. “CRF funds grants twice a year ensuring that as donations are made, the research expands and accelerates. We are on the verge of new treatments and are getting closer to a cure every day.”
Since 2003, the Cystinosis Research Foundation has funded 175 grants in 12 countries that are focused on the cause and treatments of cystinosis. In order to find a cure and better treatments for a complicated disease like cystinosis, CRF funds research in all areas the disease affects; kidneys, eyes, brain, muscle and bone.
“CRF has made an enormous impact by creating an international research community that is focused on cystinosis every day,” Stack said. “By providing funds to researchers, we have been able to leverage our research dollars by over $12.2 million in grants from the National Institutes of Health and other granting agencies. We are small in terms of our community, but we have achieved significant results. We are proud to state that CRF funded every early clinical study that resulted in an FDA approved medication that has improved the lives of our children and adults.”
In addition to gaining momentum for cystinosis findings, the research CRF funds has led to advancements in the treatment of other more prevalent disorders and diseases including other corneal diseases, muscular degenerative disorders, kidney diseases and genetic and systemic diseases similar to cystinosis.
“Our work on the new therapeutic approach we developed for cystinosis using gene-therapy and hematopoietic stem cells (HSCs) and our findings on these cells could prevent tissue degeneration, and opens new perspectives in the application of such a therapy to other genetic disorders,” said Stephanie Cherqui, Ph.D., UC San Diego. Dr. Cherqui’s stem cell therapy approach was successful in the mouse models for Friedrich’s Ataxia, a neuro-muscular degenerative disorder and in Danon disease, a cardio-muscular degenerative disorder. Dr. Cherqui said, “Based on our work on cystinosis, Dr. Olivier Devuyst in Switzerland also successfully treated the mouse model of Dent Disease, a hereditary kidney disorder, using the same approach.”
This round of research grant awards support 10 studies in five countries. The details of each study can be found on the CRF website.
About the Cystinosis Research Foundation
The Cystinosis Research Foundation is dedicated to finding better treatments to improve the quality of life for those with Cystinosis and to ultimately find a cure for this devastating disease. Since 2003, it has committed more than $29 million to support bench, clinical and translational research to find better treatments and a cure for Cystinosis. The foundation is dedicated to educating the public and medical community about cystinosis to ensure early diagnosis and proper treatment. Visit us on Facebook or
Megan Cabral
Idea Hall