The interstitial lung diseases (ILD) are a heterogeneous group of pathologies that include the lethal fibrotic disease idiopathic pulmonary fibrosis (IPF). IPF is a chronic, progressive fibrotic interstitial pneumonia of unknown cause with a median survival of approximately three years. There is no treatment for IPF and no diagnostic procedure to identify at-risk individuals or predict disease progression in asymptomatic patients; further, none of the current animal models mimics the entire disease. For these reasons, generation of an appropriate mouse model of IPF has been the central focus of our research activity.

Mutations in the SFTPC gene are associated with development of interstitial lung disease (ILD) in both children and adults. The SFTPC gene is expressed exclusively in type II epithelial cells, implicating this cell type in the pathogenesis of ILD. We have generated “knockin” mice that express mutant Sftpc alleles and genocopy human patients with ILD / IPF. These animals are being used to characterize the natural history of the disease, identify biomarkers for diagnosis and prediction of disease progression, and develop new treatment strategies.