SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

August 06, 2009 09:30 ET

Cystinosis Research Foundation Awards $1.6 Million in Grants to Find a Cure for Deadly Genetic Disease

IRVINE, CA--(Marketwire - August 6, 2009) - The Cystinosis Research Foundation of Irvine, Calif., announced it has awarded $1.6 million in new grants to eight teams of researchers in the United States and France who are working to find a cure for cystinosis, a rare, deadly metabolic and genetic disease that afflicts about 500 children and young adults in the U.S. and 2,000 worldwide.

"With more than $9 million in grants for cystinosis research issued by the CRF to date, our foundation is the leading funding source for bench and clinical investigations worldwide. Every day, CRF-funded researchers around the world get closer to unlocking the mysteries of this terrible disease. We believe we will find a cure in five to 10 years," said Nancy Stack, CRF president.

The CRF awards research grants twice each year. The largest grant in this year's first round of funding was $750,691 and was awarded to Dr. Stephanie Cherqui of the Scripps Research Institute in San Diego, Calif., for a two-year study on "Stem and Gene Therapy for Cystinosis."

Other awards were presented to researchers at the University of California, San Diego; the Massachusetts General Hospital, Boston; and the State University of New York at Buffalo.

Dr. Corinne Antiagnac at Necker Hospital in Paris also was awarded a grant. The CRF has continuously funded her cystinosis CTNS gene research since 2003.

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. Almost all sufferers succumb before 40 years old.

In patients with cystinosis, the amino acid cystine accumulates in the tissue due to the inability of the body to transport cystine out of the cell. This causes development of crystals, resulting in early cell death.

"The advancements achieved so far are the result of the CRF's focused efforts and targeted approaches to research. The CRF is funding the best and brightest scientists at world-renown institutions who are focused on better treatments and a cure for cystinosis. This strategy has produced a greater understanding of the disease and the first improved treatment now in clinical trials in more than 25 years," she said.

The CRF currently is funding 31 research studies, including nine research fellows worldwide. In 2008 the CRF funded 12 studies with grants totaling $1,741,889. The CRF also has directed significant funds to stem cell and gene therapy research while supporting researchers whose work is translatable into new treatments.

By sponsoring the first International Cystinosis Research Symposium last year, the CRF facilitated the formation of collaborative relationships among its research teams. The event was attended by more than 60 cystinosis researchers from the United States and Europe. The second symposium is scheduled for April 8-9, 2010 at the Arnold and Mabel Beckman Center of the National Academies of Engineering and Science adjacent to the University of California, Irvine, campus.

Nancy Stack and her husband, Geoffrey, an owner of the SARES•REGIS Group, an Irvine real estate company, have a daughter, Natalie, 18, with cystinosis.

The CRF has raised nearly $12 million, all of which is committed for medical research. All grants are awarded based on evaluations by the CRF's Scientific Review Board, which is comprised of leading doctors and research scientists in the field.

Listed are the eight funded research studies.

1.  Dr. Stephanie Cherqui -- Scripps Research Institute, San Diego, Calif.
    "Stem and Gene Therapy for Cystinosis"; 2-year study; $750,691
2.  Dr. Corinne Antignac -- Necker Hospital, Paris
    "Role of cystinosis in trafficking and membrane fusion"; 3-year study;
3.  Dr. Alan J. Davidson -- Harvard Medical School/Massachusetts General
    "Developing new models of cystinosis: Zebrafish and iPS cells";
    1 year study; $75,000
4.  Dr. Mary Taub -- University of Buffalo/State University of New York
    "Mechanisms Underlying the Fanconi Syndrome in Cystinosis";
    1-year study; $103,965
5.  Dr. Doris Trauner -- University of California at San Diego
    "Psychosocial Functioning in cystinosis: stress and coping with chronic
    illness"; 1-year study; $67,652
6.  Dr. Miriam Sach -- University of California at San Diego
    "Visual correlates of executive functioning in cystinosis; a structural
    MRI study"; 1-year study; $65,725
7.  Dr. Kang Zhang -- University of California at San Diego
    "Eye targeted gene therapy for cystinosis in the eye"; 2-year study;
8.  Dr. Ranjan Dohil & Betty Cabrera -- Scripps Research Institute,
    San Diego, Calif.
    "Various Cystinosis Research Projects"; 3-year study; $117,603

The Cystinosis Research Foundation is the largest non-profit provider of funds for cystinosis research in the world. For more information, call Zoe Solsby at (949) 223-7610 or visit

Contact Information

  • Contact:
    Zoe Solsby
    Cystinosis Research Foundation
    (949) 223-7610