Cystinosis Community Statement October 2023 – Novartis Acquires AVROBIO

Dear Cystinosis Community, In May 2023, Novartis acquired the investigational autologous hematopoietic stem cell (HSC) gene therapy program for the treatment of cystinosis from AVROBIO.  We look forward to continuing the development of this program and bringing new hope to patients with cystinosis. We thank you for your patience as we work quickly to transfer […]

Stem Cell Gene Therapy Treatment for Cystinosis Potential Treatment for Alzheimer’s Disease

In 2003, the mission of the Cystinosis Research Foundation was to find better treatments and a cure for cystinosis. Since then, the research funded by CRF has resulted in significant advances in the field of cystinosis have been accomplished. This research has impacted other more prevalent diseases and disorders, including Danon disease and Friedreich’s Ataxia. […]

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 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 […]

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. 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 […]

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 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 […]

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 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 […]

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 […]

Tuesday November 29, 2022

Donate to CRF today and your donation will have twice the impact to help cure cystinosis! The mission of the Cystinosis Research Foundation is to support basic, clinical, and translational research for better treatments and a cure. Today, because of your generosity and support, CRF is the largest private fund provider of grants for cystinosis […]

Research Progress Report by Bruno Gasnier, PhD, Paris University/CNRS)

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 Stéphanie Cherqui, PhD, University of California, San Diego and Corinne Antignac, MD, PhD, Imagine Institute, Paris, France

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 […]