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
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
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
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 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.
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
