2009 Science Report on Genetic Disease Released by Cystinosis Research Foundation

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Researchers of the genetic disease Cystinosis report encouraging news. The Cystinosis Research Foundation has published the third edition of its Science Report, which is designed to provide updates on cystinosis research under way and includes new abstracts of the 12 cystinosis grants issued in 2008. Cystinosis is a rare and fatal metabolic genetic disease that afflicts about 2,000 children worldwide. The CRF Science Report is available at http://www.cystinosisresearch.org

significantly changed the course of cystinosis research and we are moving closer to our mission: to find improved cystinosis treatments and a cure for cystinosis

Researchers of the genetic disease Cystinosis report encouraging news. The Cystinosis Research Foundation has published the third edition of its Science Report, which is designed to provide updates on cystinosis research under way and includes new abstracts of the 12 cystinosis grants issued in 2008. Cystinosis is a rare, genetic and slowly fatal metabolic disease that afflicts about 2,000 children worldwide. The CRF Science Report is available at http://www.cystinosisresearch.org.

The CRF research teams working on a cure for cystinosis continue to report encouraging news. The research undertaken has "significantly changed the course of cystinosis research and we are moving closer to our mission: to find improved cystinosis treatments and a cure for cystinosis," said Nancy Stack, president of CRF.

The Cystinosis Research Foundation was formed in 2003 and has raised $9.3 million, all of which is committed for medical research. The CRF is the largest fund provider of cystinosis research in the world. Currently, the CRF is funding 25 cystinosis research studies, including seven research fellows in six countries. The foundation has $1.2 million available for new research and plans to issue 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.

"The advancements achieved so far are the result of the CRF's focused mission and targeted approaches to cystinosis research. This gets research funds 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.

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 genetic disease 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.

Today, with the support of CRF's friends and community the foundation has significantly changed the course of cystinosis research and this genetic disease. CRF's funding efforts have allowed talented doctors and leading cystinosis researchers into initiate novel research studies and advance their cystinosis research efforts. For more information on the organization and its science report call CRF at 949-22-7610 or visit the site.

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