News

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

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 Ctns-/- knock-out mouse model has been instrumental in the past years to increase our understanding of cystinosis

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

“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

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

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