Cystinosis Research Foundation Names Three Pre-Eminent Scientists to 2010 Scientific Panel Advising Foundation

IRVINE, CA–(Marketwire – July 19, 2010) –  The Cystinosis Research Foundation has named three prominent researchers to its Scientific Review Board, which reviews and recommends applications for grants to study the rare and fatal metabolic disease and develop new treatments and a cure. Cystinosis afflicts about 2,000 persons, mostly children, worldwide.

Joining the CRF’s Scientific Review Board are: Drs. Stephanie Cherqui of The Scripps Research Institute, La Jolla, Calif.; Allison Eddy of the University of Washington, Seattle, Wash. and Francisco Emma of the Bambino Gesù Children’s Hospital in Rome.

Leaving the CRF’s Scientific Review Board and retiring from a historic career in metabolic disease research is Dr. Jerry Schneider, M.D., who was Professor of Pediatrics and Dean for Academic Affairs at the University of California, San Diego. He is a developer of the two breakthrough treatments for cystinosis, which he began studying in 1965.

“We are fortunate to have such pre-eminent scientists advising us on funding cystinosis research. Over the years, they have made valuable contributions to cystinosis research and are committed to finding improved treatments and a cure,” said Nancy Stack, President and co-founder of the CRF.

She added that the lifelong research on cystinosis by Dr. Schneider “has brought us to the threshold of a new treatment and a cure. He has encouraged and mentored new researchers who now, in turn, have dedicated their careers to cystinosis. Cystinosis patients and their families owe him eternal gratitude,” Stack said.

Dr. Cherqui, Ph. D., an assistant professor at The Scripps Research Institute, is credited with developing a breakthrough cell and gene therapy regimen that has improved cystinosis in mice. She is a member of the CRF Gene Therapy Consortium. Dr. Cherqui worked in Paris with a group led by Dr. Corinne Antignac that identified the cystinosis CTNS gene. Her 2002 doctoral thesis was on molecular studies of cystinosis and the generation of the mouse model for cystinosis. Dr. Cherqui is a member of the American Society of Gene and Cell Therapy. She has authored 12 publications on cystinosis, including a cover article in the October issue of the scientific journal “Blood.”

Dr. Eddy, M.D., professor of pediatrics at the University of Washington, is internationally recognized for her work on the cellular and molecular basis of kidney fibrosis and progressive kidney disease. She is the director of the Tissue and Cell Biology Research Center at Seattle Children’s Research Institute and in 2009 was elected to the Council of the International Society of Nephrology. Dr. Eddy holds the Robert O. Hickman Endowed Chair in Pediatric Nephrology at the University of Washington. She is a graduate of the McMaster University Medical School in Canada.

Dr. Emma, M.D., is head of Pediatric Nephrology at the Bambino Gesù Children’s Hospital in Rome, Italy, and president of the Italian Society of Pediatric Nephrology. Dr. Emma’s laboratory research on cystinosis has been focused on studying cell mechanisms that regulate the expression of the CTNS gene and different isoforms of the cystinosin protein. He recently began studying the therapeutic potentials of stem cells for treatment of cystinosis with the support of the CRF. Dr. Emma received his medical degree from the Catholic University of Louvain, Brussels, Belgium. He trained at Children’s Hospital, Harvard Medical School, Boston, Mass.

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.

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. There is a medication but, as yet, no cure for the disease.

Twice a year the CRF announces worldwide calls to the scientific community for research proposals. Since 2003, the CRF’s Scientific Review Board has played a key advisory role for 78 research grants totaling $11.8 million to scientists studying cystinosis in North America and Europe. Currently, there are 48 CRF-funded studies underway along with 13 CRF research fellows in the United States, Canada, France, Italy, Belgium, Ireland, Germany and The Netherlands.

The CRF is the leading funding source for cystinosis research. The foundation recently approved requests totaling $988,759 for seven new grants. Every dollar raised by the CRF is committed for medical research. Administrative costs are privately underwritten.

Nancy Stack and her husband, Geoffrey, a managing director of the SARES REGIS Group, an Irvine real estate company, have a daughter, Natalie, 19, with cystinosis.

For more information about Cure Cystinosis International Registry and the Cystinosis Research Foundation of Irvine, Calif., call Zoe Solsby at (949) 223-7610 or visit www.cystinosisresearch.org.