The Genetic Landscape of Familial Pulmonary Fibrosis

This dataset was collected from a study that was designed to identify disease-causing rare genetic variants in individuals with Familial Interstitial Pneumonia (FIP). Subjects were identified from our ongoing FIP Registry (IRB #020343), where FIP is defined as idiopathic interstitial lung disease (ILD) in two or more family members with at least one affected individual diagnosed with idiopathic pulmonary fibrosis (IPF). Whole exome sequencing was performed on ~600 affected members from 525 kindreds using genomic DNA isolated from peripheral blood.]]>
Inclusion: Patients who are diagnosed with familial interstitial pneumonia (FIP) or sporadic idiopathic interstitial pneumonias Adult relatives of patients who are clinically diagnosed with FIP Healthy volunteers who are unrelated to persons with FIP Exclusion: Unable to give informed consent or complete the study questionnaire ]]>