A portion of $425,528 in Cystinosis Research Foundation grants to work on treatments and a cure for the rare and deadly metabolic disorder will fund a research position at UC San Diego for three years, the Irvine-based foundation announced Monday.
About 500 children and young adults in the United States are among the 2,000 people worldwide who have the disease, said CRF representative Zoe Solsby.
Betty Cabrera of UCSD received $111,045 to help fund her work as a bench and clinical research assistant for a three-year period.
Also receiving grants were Dr. Minnie Sarwal and Renee Reijo Para of the Stanford University School of Medicine, who were awarded $164,483 for a one-year gene study; and
Dr. Elena Levtchenko at the University Hospital Leuven in Belgium, who was awarded $150,000 for a two-year study on "Unraveling the Mechanisms of Cysteamine Toxicity in Patients with Cystinosis.''
In cases of 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 slowly destroys every organ in the body, including the liver, kidneys, eyes, muscles, thyroid and brain. There is a medicine that prolongs the lives of children afflicted with the disorder, but there is no cure. Almost all sufferers succumb before 40 years old.
"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,''' said CRF President Nancy Stack. "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.''
The CRF is currently funding 25 research studies, including those by 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.