Researcher Liang Feng, PhD, Associate Professor of Molecular and Cellular Physiology at Stanford University, received a grant award in 2022 for his research “Investigating the Molecular Basis of Protein Dynamics in Cystinosis”. The goal of his study is to understand the molecular basis of protein dynamics that have important implications in cystinosis. Conformational transitions play …
“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 complications. The main manifestations of neuromuscular involvement have been described in previous studies, emphasizing hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and natural history of …
“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 research study will help researchers better understand how swallowing is affected in patients with cystinosis and will yield better potential targets for treatment. Drs. Seyedsadjadi and Eichler, expect to better …
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. Cystinosis affects approximately 2,000 people in the world, and because of CRF’s targeted strategy, our funded research has led to two FDA approvals and several clinical trials. One of the …
Join us on Rare Disease Day February 28, 2023 and Celebrate our Research Progress Read More »
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 cystinosis! Drs. Chen and Devuyst have used zebrafish, also called “zebra danio” at your local pet store, to create a new cystinosis animal model. These fish will be used for …
Final Report: Studies Using Zebrafish Models by Dr. Chen and Dr. Devuyst Read More »
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 to a better treatment for ocular cystinosis. The study by Dr. Morgan DiLeo is focused on a sustained-release drug delivery mechanism. This mechanism has the goal of replacing the hourly …
Research for Ocular Cystinosis by Dr. Morgan DiLeo and Dr. Xin Fan Read More »
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 Hollywood and her team in New Zealand for a study to test a new version of cysteamine, CF10, along with the drug everolimus, as a superior treatment to cysteamine alone. …
Research by Dr. Jennifer Hollywood-A Drug Better than Cysteamine? Read More »
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 …
CRF has provided over $1 million in research funding to Dr. Gasnier since 2007. In the fall of 2021, Dr. Gasnier was awarded a new grant to research the critical role of cystinosin during embryo development. This is the first progress report for this important project. A Critical Role for Cystinosin During Embryo Development. Cystinosis …
Research Progress Report by Bruno Gasnier, PhD, Paris University/CNRS) Read More »
CRF awarded a research grant in 2017 to Stéphanie Cherqui, PhD, Professor, Department of Pediatrics, at the University of California, San Diego, and Corinne Antignac, MD, PhD, Professor, Laboratory of Hereditary Kidney Diseases, at Imagine Institute, in Paris. The study was designed to gather intra-dermal images of the skin from patients with cystinosis through confocal …
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