CRF Research Helps Other Diseases and Disorders

Stéphanie Cherqui, PhD, Awarded $4.8 million CIRM Grant for Friedreich’s Ataxia


We have always known that studying a complicated disease like cystinosis would lead to discoveries in other more prevalent diseases and disorders. On November 29, Dr. Cherqui, a professor, in the Department of Pediatrics at the University of California, San Diego, (UCSD), was awarded a $4.8 million grant from the California Institute of Regenerative Medicine (CIRM) for her work on Friedreich’s Ataxia, a degenerative neuromuscular disorder. 

It was CRF funding of Dr. Cherqui’s cystinosis work that provided the foundation for her research on Friedreich’s Ataxia. To date, CRF has awarded over $6.1 million to Dr. Cherqui for her cystinosis stem cell and gene therapy work. Dr. Cherqui is appreciative of CRF’s early and continuous support of her stem cell and gene therapy project which resulted in an FDA-approved clinical trial for cystinosis and now, a CIRM grant for a potential treatment for Friedreich’s Ataxia. 

“The gene therapy approach we are developing for Friedreich’s Ataxia is based on the discoveries we did on cystinosis. The fact that hematopoietic stem cells could rescue a disease such as cystinosis and the mechanism by which these cells could provide the healthy protein to tissues, opened new perspectives in the application of such a therapy to other genetic disorders.” View the full article 

Congratulations to Dr. Cherqui for this accomplishment. We are grateful for her dedication to the cystinosis community and for helping other rare disease communities.