
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

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

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