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Consortium identifies genome regions that could influence severity of cystic fibrosis
Date:5/23/2011

CHAPEL HILL, N.C. A team of researchers, including a number from the University of North Carolina at Chapel Hill School of Medicine, have pinpointed regions of the genome that contribute to the debilitating lung disease that is the hallmark of cystic fibrosis.

Their findings provide insight into the causes of the wide variation in lung disease severity experienced by CF patients. It also points the way to new diagnostic markers and therapeutic approaches for this and more common lung diseases such as COPD.

This study, which appears online Sunday, May 22, 2011 in the journal Nature Genetics, is among the first reported genome-wide scans of a single gene disorder. It was the work of the North America CF Gene Modifier Consortium, which brought together dozens of investigators from the United States and Canada to identify which regions of the genome are associated with lung disease severity in almost 3,500 CF patients.

"This cystic fibrosis discovery showcases the valuable information that can be obtained when scientists work together on genome wide association studies," said Susan B. Shurin, MD, acting director of the NHLBI. "Now we are closer to understanding why patients with the exact same genetic mutation in the cystic fibrosis gene have such widely varying manifestations of lung disease, and closer to finding new therapies."

CF is a genetic disease that causes the lungs to clog up with thick, sticky mucus that is prone to infection. Though every CF patient carries mutations in both copies of the same gene coding for a protein called cystic fibrosis transmembrane conductance regulator or CFTR symptoms can vary widely from patient to patient. For instance, some patients can have such severe lung disease that they are near death at the age of 10, whereas others can have nearly normal lung function at the age of 35.

"There is very good reason to believe that what we have discovered in CF lung disease could a
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Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina School of Medicine
Source:Eurekalert

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