Cystinosis Research Foundation Funds Researchers in U.S., Europe with to Unlock Mysteries of Rare Disease

IRVINE, Calif.--(BUSINESS WIRE)--The Cystinosis Research Foundation of Irvine, Calif., announced it has awarded $425,528 in grants to researchers in the United States and Belgium who are working on new treatments and a cure for cystinosis, a rare, deadly metabolic disorder that afflicts about 500 children and young adults in the United States and 2,000 worldwide.

“With more than $7,436,638 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 researchers around the world get closer to developing new treatments and a cure for cystinosis, which we believe will come in the next five years,” said Nancy Stack, CRF president.

Dr. Elena Levtchenko at the University Hospital Leuven in Belgium was awarded $150,000 for a two-year study called “Unraveling the Mechanisms of Cysteamine Toxicity in Patients with Cystinosis.” At Stanford University School of Medicine, Dr. Minnie Sarwal and Renee Reijo Para, Ph.D., received $164,483 for a one-year study on the “Characterization of Novel Lysosomal Genes for Immune Regulation and Spermatogenesis in Nephropathic Cystinosis.” The CRF also awarded $111,045 to Betty Cabrera, MPH, at the University of California at San Diego to fund her work as a bench and clinical research assistant for three years.

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.

Cystinosis is a metabolic disease that eventually, 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.

“The advancements achieved so far are the result of the CRF’s focused efforts and targeted approaches to research. This gets money directly into the labs of the world’s leading cystinosis doctors and scientists so they can complete their important work. This policy has produced a greater understanding of the disease and the first improvement in treatment to come in more than 25 years,” she said.

The CRF currently is funding 25 research studies, including seven research fellows in six countries. The foundation has $1.2 million available for new research and plans to put out a global call for research proposals and fellowship grants on March 15, 2009. In 2008 the CRF funded 12 studies with grants totaling $1,741,889.

Last year, the CRF facilitated the formation of collaborative relationships among its research teams. The CRF also has directed significant funds to stem cell and gene therapy research while supporting researchers whose work is translatable into new treatments. The foundation also sponsored the first International Cystinosis Research Symposium at the Arnold and Mabel Beckman Center of the National Academies of Science Engineering at the UCI campus. 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.

Nancy Stack and her husband, Geoffrey, an owner of the SARES●REGIS Group, an Irvine real estate company, have a daughter, Natalie, 17, with cystinosis.

The CRF was formed in 2003 and has raised $9.3 million, all of which is committed for medical research. The three new studies were among seven proposed following the call for research proposals issued last fall. All grants are awarded based on evaluations by the CRF’s Scientific Review Board.

Cystinosis Research Foundation
Zoe Solsby, 949-223-7610
or Art Barrett, 714-508-1950