Zoe Solsby

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 do, and with your help, we will find better treatments and a cure for cystinosis. Although we are rare, we dare to do the remarkable. Cystinosis affects approximately 2,500 people […]

Join CRF on Rare Disease Day February 29, 2024 and Celebrate 21 Years of Research Progress! Read More »

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 cystinosis with iPS cells. The goal of his study is to use human mini-kidneys as surrogates for patients to explore the potential of kidney regeneration, gene therapy, and drug discovery

Research Progress Report by Dr. Benjamin S. Freedman, Associate Professor, University of Washington Read More »

Join Us on Rare Disease Day February 28, 2024 and Celebrate More Than 20 Years of CRF 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 do, and with your help, we will find better treatments and a cure for cystinosis. Although we are rare, we dare to do the remarkable. Cystinosis affects approximately 2,500 people

Join Us on Rare Disease Day February 28, 2024 and Celebrate More Than 20 Years of CRF Research Progress Read More »

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.  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

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

Research Progress Report by Drs. Francesco Emma and Anna Taranta, Bambino Gesù Children’s Hospital Read More »

Stem Cell Gene Therapy Treatment for Cystinosis Potential Treatment for Alzheimer’s Disease

In 2003, the mission of the Cystinosis Research Foundation was to find better treatments and a cure for cystinosis. Since then, the research funded by CRF has resulted in significant advances in the field of cystinosis have been accomplished. This research has impacted other more prevalent diseases and disorders, including Danon disease and Friedreich’s Ataxia.

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

Research Progress Report by Pascal Laforêt, MD, PhD and Hélène Prigent, MD, PhD, Raymond Poincaré University Hospital, Garches, France Read More »

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 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

Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts Read More »