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UC San Diego Researchers Awarded $889,000 for Cystinosis Studies

The campus is one of the leading institutions investigating the rare, genetic disease

Two researchers at the University of California, San Diego School of Medicine have been awarded grants totaling more than $889,000 from the Cystinosis Research Foundation (CRF) to investigate better treatments and a cure for cystinosis. A rare and deadly genetic disease, cystinosis affects about 500 children and young adults in the United States and 2,000 worldwide. The most recent grants bring the total funding from CRF to UC San Diego School of Medicine researchers to more than $5.5 million since 2003.

“UC San Diego School of Medicine has long been at the forefront of cystinosis research,” said CRF President Nancy Stack. “Our continued partnership will lead to new discoveries and treatments to improve the lives of children and families coping with cystinosis, while at the same time, helping to advance knowledge of other more prevalent diseases, such as Parkinson’s and Huntington’s disease. We are committed to finding a cure.”

Cystinosis is a metabolic disease in which the body’s cells accumulate the amino acid cystine. The buildup causes crystals to form that damage the cells and consequently, the muscles and major organs of the body including the kidneys, liver, eyes, bone marrow, thyroid and brain. There is a treatment—discovered at UC San Diego—that can extend patients’ lives, but there is no cure.

Stéphanie Cherqui, Ph.D., in the Department of Pediatrics, received funding for two studies related to stem cell and gene therapy which aim to advance the search for a cure. Cherqui is well-known in the cystinosis community, and serves on the Scientific Review Board of the Cystinosis Research Foundation. She was part of the scientific team that discovered the cystinosis gene and in 2009, her work successfully reversed the disease and halted tissue damage in mice.

A separate grant awarded to Angela Ballantyne, Ph.D., in the Department of Neurosciences, will support research related to quality of life issues in adults with cystinosis.

UC San Diego School of Medicine is one of the leading institutions for cystinosis research. Decades ago, clinical researcher Jerry Schneider, M.D., developed the first existing treatment for the disease. In April 2013, a new, improved treatment developed by Ranjan Dohil, M.D., UC San Diego clinical professor and pediatric gastroenterologist at Rady Children’s Hospital, San Diego—a research affiliate of UC San Diego, received FDA approval. It is now available for patients under the name Procysbi™, and the formula is also being used in clinical trials for Huntington’s disease and NASH, a progressive liver disease.


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