Cystinosis Research Foundation Awards $1.47 Million in Research Grants

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This year’s awards, going to nine scientific studies in four countries, bring the foundation’s total donations and research funding since 2003 to $35 million.

The Cystinosis Research Foundation, the largest provider of grants for cystinosis research in the world, announced today that it has awarded $1.47 million to date this year in grants to researchers in four countries in an ongoing quest to find improved treatments and a cure for the disease.

Cystinosis is a rare, incurable metabolic disorder that afflicts 500 children and young adults in the United States and only 2,000 people worldwide. It slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and brain due to a buildup of amino acid cystine that crystallizes and kills the cells.

This year’s grants, supported through donations from the 2016 Natalie’s Wish fundraising gala, are supporting research in the United States, New Zealand, France and Italy.

“We are deeply grateful to everyone who helped fund these new grants and ongoing research projects,” said CRF Founder Nancy Stack. “Every dollar donated to our organization for research goes to fund research grants. We are working together to ensure that the cycle of research continues at a rapid pace and that CRF funded researchers collaborate in an effort to accelerate research discoveries. We are on the brink of new treatments and are getting closer to a cure.”

Since 2003, the Cystinosis Research Foundation has raised $35 million for scientific studies into the cause and treatments of the disease, supporting 143 studies in 12 countries. Among other advancements in the study of the disease, CRF funded the development of a delayed-release medication approved in 2013 by the FDA. Ongoing research, in addition to studies funded this year, includes an allogeneic stem cell transplantation trial at UCLA, which is bringing the organization tantalizingly close to a cure.

“CRF has issued many grants that the National Institutes of Health or other large agencies would typically not fund because of the very small population of patients with this disease,” Stack said. “However, by providing researchers seed money, we have been able to leverage our research dollars by over $7 million in grants from the NIH and other granting agencies. We may be small in numbers, but we are big on achieving results. Much of the research funded through our organization has not only helped cystinosis patients, but has also led to advancements in the treatment of other diseases such as Huntington’s disease and Parkinson’s disease.

This year’s research grant awards support nine studies in four countries. They include:

United States
The Scripps Research Institute, La Jolla, California

  •     $75,000 to Sergio Catz, Ph.D., and Jinzhong Zhang, Ph.D., “Improvement of Cellular Function through Chaperone-Mediated Autophagy and Cellular Trafficking in Cystinosis.”

University of California, San Diego, California

  •     $160,589, (a two-year grant), to Ilya Gertsman, Ph.D., and Bruce Barshop, M.D. “Elucidation of Altered Metabolism and Biomarkers in Cystinosis.”
  •     $67,582 to Stephanie Cherqui, Ph.D., “Stem Cell Research Associate Support.”

University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

  •     $155,484 to Morgan Fedorchak, Ph.D., and Kanwal Nischal, M.D., FRCO, “Development of a Topical, Controlled Release Cysteamine Eye Drop.”

Massachusetts General Hospital, Boston, Massachusetts

  •     $96,129 to Florian Eichler, M.D., and Sherman Alexander, M.Sc., “Clinical Trial Readiness for Distal Myopathy in Nephropathic Cystinosis.”

Harvard Medical School, Boston, Massachusetts

  •     $225,000 (a three-year grant) to Norbert Perrimon, Ph.D., and Patrick Jouandin, Ph.D., “Profiling Metabolic Dysfunction Caused by Cystinosis.”

Paris Descartes University, France

  •     $225,000 (a three-year grant) to Bruno Gasnier, Ph.D., and Yann Terres, M.Sc., “Mechanism and Pathophysiological Significances of a Genetic Interaction of Cystinosin.”

Bambino Gesù Children’s Hospital, Rome, Italy

  •     $180,400 to Giusi Pencipe, Ph.D., and Fabrizio De Benedetti, M.D., Ph.D., “NLRP2 in the Pathogenesis of Cystinosis.”

New Zealand
The University of Auckland, New Zealand

  •     $145,852 (a two-year grant) to Alan Davidson, Ph.D., and Teresa Holm, Ph.D., M.D., “Kidney Organoids: A New Model to Study Cystinosis.”

About the Cystinosis Research Foundation
The Cystinosis Research Foundation is dedicated to finding better treatments to improve the quality of life for those with cystinosis and to ultimately find a cure for this devastating disease. Since 2003, it has raised and committed more than $35 million to support bench, clinical and translational research to find better treatments and a cure for cystinosis. The foundation is dedicated to educating the public and medical community about cystinosis to ensure early diagnosis and proper treatment. Visit us on Facebook or

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