Zoe Solsby

Research Update-Advancing the Understanding of Renal Fanconi Syndrome in Cystinosis

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 […]

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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

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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

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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

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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

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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

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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 for the proton-driven transporter cystinosin (CTNS) that exports cystine out of lysosomes. The loss of CTNS results in the lysosomal cystine storage, causing early manifestations of kidney proximal tubule (PT)

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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 to neuromuscular complications. The main manifestations of neuromuscular involvement have been described in previous studies, emphasizing on hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and

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