Zoe Solsby

“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 …

Research Progress Report by Pascal Laforêt, MD, PhD and Hélène Prigent, MD, PhD, Raymond Poincaré University Hospital, Garches, France Read More »

“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 …

Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts 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 Research Helps Other Diseases and Disorders Read More »

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 …

Research Progress Report by Stéphanie Cherqui, PhD, University of California, San Diego and Corinne Antignac, MD, PhD, Imagine Institute, Paris, France Read More »