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Cystic fibrosis severity is determined by patient's genetics

(RxWiki News) Johns Hopkins Institute for Genetic Medicine researchers working in conjunction with the North American Cystic Fibrosis Consortium have discovered two regions of the genome that affect the severity of cystic fibrosis.

Cystic fibrosis is a genetic condition that causes scarring throughout the body, most notably the pancreas and lungs. This Johns Hopkins research team is the first to identify genetic variations associated with the most severe cases of cystic fibrosis.

"Cystic fibrosis severity is determined by a patient's gene alterations."

Garry Cutting, M.D., a professor of pediatrics and member of the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins explains that the gene which causes cystic fibrosis has already been identified. This study used gene samples from over 3,000 cystic fibrosis patients.

That gene, however is not predictive of how severe the cystic fibrosis will become. Cutting continued to explain most CF patients born today will only live to their mid-30s. Some of these patients, however, die before their tenth birthday while others live into their 50s. The researchers wanted to know why this is the case.

These genes identified by the John Hopkins researchers influence the course the disease will take and explain how severe the condition will become.

Cutting goes on to comment that with the discovery of these new genes that influence the course of cystic fibrosis, a customization of treatments for patients with these unfavorable genetic modifiers is the realization of individualized medicine.

The team is now eager to determine how  these altered candidate genes determine the severity of CF. Of course, Cutting would like to extend the median life expectancy of cystic fibrosis patients by establishing different therapies to use, so patients with the most severe cystic fibrosis will live longer.

The first step toward developing such therapies is determining how the altered genes determine CF's severity in each patient.

Review Date: 
May 18, 2011