Project description:Idiopathic pulmonary fibrosis (IPF) is a lethal fibrotic lung condition with an unpredictable disease course. The pathology of IPF starts in the lung bases such that a patient’s lung apices are comparatively less fibrotic at the time of transplantation. We hypothesized that RNA sequencing of the lung apices and bases may identify differentially expressed genes that better reflect disease progression in IPF. Samples were derived from both right and left lungs when available and RNA Seq was performed on a total of 139 samples.
Project description:<p>The major goal of this project is to apply second generation resequencing technology to identify disease causing variants influencing pediatric and adult lung diseases in a collection of two longitudinal population cohorts of cystic fibrosis patients that have been well characterized for a comprehensive set of clinical traits. In Phase I, exome sequencing was performed on 43 cystic fibrosis patients with early <i>Pa</i> infection and 48 cystic fibrosis patients with late <i>Pa</i> infection to identify variants influencing the time to onset of <i>Pa</i> infection. In Phase II, additional exomes were added to the study, to reach a total of 91 individuals with early <i>Pa</i> infection and 96 with late <i>Pa</i> infection. The majority of the 340 subjects of Phase II do not have a <i>Pa</i> infection phenotype, but instead have a pulmonary function phenotype (121 severe vs. 124 mild impairment) as determined by the survival corrected Kulich FEV percentile of Corey et al. A small minority have intermediate phenotypes and/or show severe decline in lung function during childhood.</p>