Study of Genes that Affect the Severity of CF Disease

The University of North Carolina at Chapel Hill and Case Western Reserve University are the coordinating centers for a multi-center trial interested in studying DNA from volunteers with Cystic Fibrosis (CF) to determine if modifier genes may affect the clinical course of CF lung disease.  In addition, researchers at the University of North Carolina are studying modifier genes that may play a role in the development of CF liver disease.  Modifier genes are genes, other than the CF gene (CFTR), which may directly or indirectly have an affect on how the body responds to the conditions that develop as the result of defective CFTR.  Scientists have long wondered why some patients with CF are sicker than others.  They have learned that different mutations (changes) in the CF gene may affect the severity of CF lung disease.  However, there is still a wide range in the severity of the disease even among people who had the same CF genotype (form of the CF gene). 

To better understand the problem, this study was designed to compare the genetic makeup of CF patients, who are considered to have mild disease with those that have more severe disease, to see if they can identify any modifier genes.  Researchers will study blood samples, pulmonary function tests, and other medical information, in hopes that a connection can be made between genetic make-up and disease severity.  The identification of modifier genes that influence disease severity may ultimately lead to a better understanding of Cystic Fibrosis, and may be useful in the development of new treatments.




This site was developed at UNC Chapel Hill in conjunction with the UNC-CH School of Medicine and the Cystic Fibrosis Foundation.
Copyright 2006 UNC Chapel Hill Pulmonary Research and Treatment Center, All Rights Reserved.
Updated Feb 6, 2006