Research Grant Progress Report by Liang Feng, PhD, Associate Professor, Stanford University in California
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 […]
Research Progress Report by Drs. Francesco Emma and Anna Taranta, Bambino Gesù Children’s Hospital
Researchers Francesco Emma, MD, Head Nephrology Unit, and Anna Taranta, PhD, Senior Research Associate, received grant funding in 2022 for their research on the “Impact of Diet Composition on Renal Function and Bone Disease of Ctns⁻/⁻ Mice.” The aim of their project is to define which dietary components are essential to develop a severe disease […]
Final Research Progress Report by Xin Fan, PhD, and Morgan DiLeo, PhD
Xin Fan, PhD, Investigator and Morgan DiLeo, PhD, Mentor, University of Pittsburgh, Pennsylvania In the fall of 2022, CRF awarded this grant to Dr. DiLeo and her research fellow, Xin Fan, to investigate a sustained-release drug delivery mechanism to improve the treatment of ocular cystinosis, titled “Liposome cysteamine carriers for eye drop formulation with long-term […]
Research Progress Report by Olivier Devuyst, MD, PhD, University of Zürich
“Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis.” Objective/Rationale: Cystinosis is a lysosomal storage disease caused by loss-of-function mutations in the CTNS gene coding for the proton-driven transporter cystinosin (CTNS) that exports cystine out of lysosomes. The loss of CTNS results in the lysosomal cystine storage, causing early manifestations of kidney proximal tubule (PT) […]
Progress Report by Dr. Laforêt, MD, PhD, Raymond Poincaré University Hospital, Garches, France
Project: Improving characterization of neuromuscular involvement in adults with cystinosis. Beside the consequences of renal failure, the 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 on hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and […]
Join CRF on Rare Disease Day February 29, 2024 and Celebrate 21 Years of Research Progress!
What is a rare disease? Our community might be small in numbers, but our determination to cure cystinosis is unstoppable! We have more work to do, and with your help, we will find better treatments and a cure for cystinosis. Although we are rare, we dare to do the remarkable. Cystinosis affects approximately 2,500 people […]
Research Progress Report by Dr. Benjamin S. Freedman, Associate Professor, University of Washington
CRF issued the first grant award to Benjamin ‘Beno’ Freedman, PhD, in 2021 to support his important research on developing a therapeutic strategy for nephropathic cystinosis with iPS cells. The goal of his study is to use human mini-kidneys as surrogates for patients to explore the potential of kidney regeneration, gene therapy, and drug discovery […]
Let’s Keep The CRF Gift Challenge Going For Giving Tuesday!
We are grateful to every person who has generously donated to our Giving Tuesday Campaign, and we are close to reaching the $200,000 goal. With your help today, your donation will have twice the impact, and push us over the finish line, putting your donations to work funding new cystinosis research grants for better treatments […]
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. […]