Join us on Rare Disease Day February 28, 2024 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 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 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
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
Research Progress Report by Pascal Laforêt, MD, PhD and Hélène Prigent, MD, PhD, Raymond Poincaré University Hospital, Garches, France
“Improving Characterization of Neuromuscular Involvement in Adults with Cystinosis”. Beside the consequences of renal failure, long-term prognosis of cystinosis seems to be related to neuromuscular
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
