Final Research Report Olivier Devuyst, MD, PhD, Principal Investigator, and Marine Berquez, PhD, Co-Principal Investigator
Final Research Grant Report Olivier Devuyst, MD, PhD, Principal Investigator, and Marine Berquez, PhD, Co-Principal Investigator, University of Zurich, Switzerland Role of Nutrient Sensing and mTORC1 Signaling in Cystinosis 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 […]
Novartis Statement to the Cystinosis Community
October 24, 2024 Dear Cystinosis Community, We hope that you are enjoying the fall. The Novartis teams have been hard at work collaborating with the cystinosis community, cystinosis patient advocacy groups, cystinosis experts and health authorities to move the program forward since the Novartis acquisition of the investigational autologous hematopoietic stem cell (HSC) gene therapy […]
Join Dr. Donny Suh live on November 5, 2024 with conversation and information on ocular cystinosis!
For those of you who attended the Day of Hope this year, we introduced you to Dr. Donny Suh from UC Irvine. He is an expert on ocular cystinosis. He held an eye clinic at the family conference and thanks to you examined 36 patients with cystinosis. We are excited that he will be joining […]
Research Update-Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis by Stéphanie Cherqui
Stéphanie Cherqui, PhD, Principal Investigator, University of California, San Diego “Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis” Over the last few years, CRF has awarded $656,485 in research grants to Dr. Cherqui for this important study to better understand how cystinosis affects the kidneys. Even though cystinosin, the protein involved in cystinosis, is […]
Research Update by Dr. Jennifer Hollywood and Dr. Alan Davidson A New Version of Cysteamine?
Jennifer Hollywood, PhD, University College Cork, Ireland, and Alan Davidson, PhD, University of Auckland, New Zealand Drs. Hollywood and Davidson are using rodent models to test a better variant of cysteamine and to find alternative therapies that target other pathways to improve the lives of patients with cystinosis. Since 2020, CRF has awarded $430,422 to […]
CRF Scientific Review Board Welcomes Two New Members
CRF is excited to announce the addition of two outstanding scientists to the CRF Scientific Review Board (SRB). These new members are experts in the field of cystinosis and have a deep commitment to the cystinosis community. With the expertise and dedication of our Scientific Review Board, we are changing the future of cystinosis. Please […]
Research Grant Progress Report by Justine Bacchetta, MD, PhD, Hospices Civils de Lyon, France
CRF awarded Justine Bacchetta, MD, PhD, and Irma Machuca-Gayet, PhD, their first two-year cystinosis research grant in 2018 for the study of cysteamine toxicity on the bone that became known as the CYSTEABONE project. Additional grants have been awarded every two years since then to continue the research on the pathophysiology of bone disease in […]
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 […]