SOURCE: Cystinosis Research Foundation

Cystinosis Research Foundation

April 25, 2011 20:59 ET

Annual Cystinosis Fundraiser to Honor Researchers Whose Breakthroughs Have Advanced Disease's Treatment and Cure

IRVINE, CA--(Marketwire - Apr 25, 2011) - The annual Natalie's Wish fundraiser for the Cystinosis Research Foundation is set for May 21 in Newport Beach, Calif. Slated to be honored at the event are four of the world's top cystinosis researchers, whose work has led to major breakthroughs for better treatments and a cure for the rare and fatal metabolic disease.

The event also will feature the South African male vocal group whose songs were used by Oscar winner Clint Eastwood in his powerful 2009 film "Invictus" about Nelson Mandela's struggle to unite his racially divided nation.

"This year's event will celebrate discovery and hope. We will honor the contributions of four of the leading CRF-funded researchers from the United States and France who are unlocking the mysteries of cystinosis. We'll also be entertained by Overtone, a group of seven talented young men, who were discovered in Cape Town by Clint and Dina Eastwood and are achieving growing popularity in the U.S.," said Nancy Stack, co-founder and trustee of the Cystinosis Research Foundation.

"Given the extraordinary successes that have already been achieved through CRF efforts, this year's celebration will undoubtedly be the most exciting and emotional ever," she said.

Cystinosis afflicts about 500 children and young adults in the United States and 2,000 worldwide. Cystinosis is an abnormal accumulation of the amino acid cystine that slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. Most cystinosis sufferers succumb to the disease or its complications by age 40.

The Cystinosis Research Foundation has awarded $11.8 million in research grants since 2003 and is funding 48 studies and 13 research fellows worldwide. The CRF is the leading funding source for bench and clinical investigations of cystinosis worldwide.

The four researchers being honored are:

Jerry Schneider, M.D., Dean for Academic Affairs Emeritus at the University of California, San Diego, School of Medicine. Dr. Schneider is recognized among the world's leading cystinosis experts.

Corinne Antignac, M.D., of the Necker Children's Hospital in Paris, who first identified the cystinosis CTNS gene.

Rajan Dohil, M.D., Professor of Pediatrics at UC San Diego, who with Dr. Schneider developed a delayed-release form of cysteamine, the only cystinosis medication.

Stephanie Cherqui, Ph.D., Assistant Professor at The Scripps Research Institute In San Diego, Calif., who established proof of concept for bone marrow stem transplantation in the mouse model for cystinosis.

Also set to be recognized at the event is Raptor Pharmaceuticals of Novato, Calif., which has licensed DR Cysteamine, the proposed drug that was formulated by Drs. Dohil and Schneider. DR Cysteamine is in clinical trials for FDA approval.

The event culminates a three-day conference that will draw more than 130 participants who will be able to meet and share their stories of coping with cystinosis, drawing inspiration from each other and hope from leading researchers for healthier future.

The conference, sponsored by Raptor Pharmaceuticals and Sigma-Tau Pharmaceuticals Inc., also will feature top cystinosis researchers from around the world who will detail their progress on gene and stem cell therapies, novel eye research and neurological issues related to cystinosis.

For more information visit or call the foundation (949) 223-7610.

Contact Information

  • Contact:
    Art Barrett

    Zoe Solsby