News

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. […]

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

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

Morgan DiLeo, PhD, Assistant Professor, and Ken Nischal, MD, FRCO, Professor, Chair of Pediatric Ophthalmology at the University of Pittsburgh, received their most recent grant award in spring 2020 for their work to develop a controlled release cysteamine eye drop. CRF has supported and funded their important research for corneal cystinosis since 2016 with $880,258

CRF awarded Justine Bacchetta, MD, PhD, and Irma Machuca-Gayet, PhD, their first cystinosis research grant in 2018, for the study of cysteamine toxicity on the bone which became known as the CYSTEABONE project. The second grant was awarded in the fall of 2020, to further study the pathophysiology of bone disease in nephropathic cystinosis.  This

Researcher Liang Feng, Associate Professor of Molecular and Cellular Physiology at Stanford University, and Research Fellow Xue Guo received a grant award in 2020 to continue their work on the Molecular Mechanism of Cystinosis. The objectives of this study are to understand several key aspects of how membrane proteins that have important implications in cystinosis

Stem Cell and Gene Therapy Trial Update with Dr. Stéphanie Cherqui, Jordan Janz, and Barb Kulyk Presented Tuesday, October 27, 2020 We had a record of 309 people participating from 20 countries around the world.  The participants represented the myriad of people in our community; adults with cystinosis, parents of children and adults with cystinosis,

In 2018, CRF awarded a grant to Olivier Devuyst, MD, PhD, University of Zurich, Switzerland, and Francesco Emma, MD, Bambino Gesù Pediatric Hospital, Rome, Italy, for their research on the Development and Characterization of a Rat Model of Cystinosis.  They successfully generated a novel Ctns-/- rat model that replicates the clinical symptoms of human nephropathic