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Cystinosis Research Foundation Awards $2 Million to Find Cure for Deadly, Genetic Disease

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It brings the CRF's 2011 total to more than $2 million in funded grants. Included is funding for additional research on stem cell and gene therapy, which holds the greatest promise to cure the rare, deadly metabolic and genetic disease. Cystinosis afflicts about 500 children and young adults in the United States and 2,000 worldwide.

"A cure is within sight. These studies will provide important data to realize our goals which will be life changing for the cystinosis community. Our hope is to begin transplanting healthy stem cells into human patients soon. The CRF is funding other important cystinosis research that could offer hope to those diagnosed with Parkinson's and Huntington's disease," said Nancy Stack, CRF Trustee and President.

The CRF's autumn grants were awarded to five research programs at hospitals and universities in the United States, Italy, Belgium, Ireland and Australia. In the last 10 years the CRF has raised more than $17.5 million and has funded 90 studies and fellowships in nine countries. The CRF is the leading funding source for bench and clinical investigations of cystinosis worldwide.

"We are guided by the extraordinary members of the CRF Scientific Review Board who evaluate and analyze every research proposal we receive during our twice-a-year announcement for research and fellowship applications," Stack said. The scientific panel is headed by Dr. Corinne Antignac, a Paris researcher who first identified the CTNS gene in 1998.

Dr. Stephanie Cherqui, assistant professor at Scripps' Department of Molecular and Experimental Medicine, was on Dr. Antignac's team that discovered the cystinosis gene and she chairs the CRF Cystinosis Gene Therapy Consortium. Dr. Cherqui's work, in 2009 reversed the disease and halted tissue damage in mice.

Cystinosis is a metabolic disease that slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. There is a medicine that prolongs the children's lives, but there is no cure. Most cystinosis sufferers succumb to the disease or its complications by age 40.

The CRF's mission to find a better treatment for cystinosis has been realized with completion of RP103 Phase 3 clinical trials of delayed-release cysteamine. Raptor Pharmaceuticals, which has licensed the CRF-funded research and is conducting the clinical trials and anticipates FDA approval this year. In addition, the cysteamine and its delayed-release formula is being used in clinical trials for Huntington's disease and NASH, a progressive liver disease.

The CRF also has launched the Cure Cystinosis International Registry (CCIR), whose purpose is to consolidate information about cystinosis patients into a single data repository which will help advance research and clinical trials leading to future treatments and cures.

Stack and her husband, Geoffrey, a managing director of the SARES•REGIS Group, an Irvine real estate company, have a daughter, Natalie, 20, with cystinosis. Every dollar raised by the CRF is committed for medical research.