Research Progress Report by Pascal Laforêt, MD, PhD and Hélène Prigent, MD, PhD, Raymond Poincaré University Hospital, Garches, France
“Improving Characterization of Neuromuscular Involvement in Adults with Cystinosis”. Beside the consequences of renal failure, long-term prognosis of cystinosis seems to be related to neuromuscular
Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts
“Optimizing Dysphagia Assessments Using MBSImP in Adults with Nephropathic Cystinosis”. Swallowing difficulty is a major concern in patients with nephropathic cystinosis. The results of this
Join us on Rare Disease Day February 28, 2023 and Celebrate our Research Progress
Although we are rare, we dare to do the remarkable! There are approximately 7,000 rare diseases affecting over 30 million people in the United States.
Final Report: Studies Using Zebrafish Models by Dr. Chen and Dr. Devuyst
Olivier Devuyst, MD, PhD, and Zhiyong Chen, PhD, University of Zurich, Switzerland That fish in your aquarium is becoming a fighter in the battle against
Research for Ocular Cystinosis by Dr. Morgan DiLeo and Dr. Xin Fan
Morgan DiLeo, PhD, and Xin Fan, PhD, University of Pittsburgh, Pennsylvania CRF continues to partner with Dr. DiLeo, whose exciting work is paving the way
Research by Dr. Jennifer Hollywood-A Drug Better than Cysteamine?
Jennifer Hollywood, PhD, University of Auckland, New Zealand Could this new drug be better than cysteamine? Since 2020, CRF has awarded $430,422 to Dr. Jennifer