Research Scientist
University of North Carolina at Chapel Hill
Jaclyn R. Stonebraker, PhD, Research Associate
Marsico Lung Institute, UNC School of Medicine, University of North Carolina at Chapel Hill, Chapell Hill, NC 27599
Only a subset of cystic fibrosis (CF) patients develop severe liver disease (CFLD; portal hypertension due to cirrhosis; 3-5%), and this does not correlate with the type of CF gene (CFTR) mutation. Thus, there must be other (non-CFTR) genetic variation that contributes to the development of CFLD. The goals of our research are to identify genes modify CF liver disease by analyzing genome-wide association study (GWAS) in whole genome sequenced (WGS) populations of CF patients with and without severe liver disease. The long term goal of our research is to identify the major gene modifiers for CFLD, which will provide the opportunity for a novel, genetic-based technique to identify CF children at risk for CFLD. If successful, our study will provide novel prognostic approaches, and identification of novel, targeted therapies to prevent severe biliary cirrhosis before it occurs in CF children.