The Vanderbilt Pulmonary Fibrosis Research Group identified mutations in the gene encoding for surfactant protein C as the first genetic cause of pulmonary fibrosis (Thomas et al. AJRCCM 2002. 165:1322-8)

Studies of families with pulmonary fibrosis revealed mutations in telomerase genes (TERT and TERC) cause pulmonary fibrosis in families (Armanios et al. NEJM 2007. 356:1317-26.)

We found that endoplasmic reticulum stress directly promotes lung fibrosis (Lawson et al, AJPLCMP 2008. 294:1119-26; Lawson et al. PNAS 2011. 108:10562-7.)

In 2013, we reported the use of transbronchial cryobiopsy for diagnosis of interstitial lung disease (Kropski et al. PLOS One 2013. 8:e78674)

We described mutations in DKC1 as a novel genetic cause of pulmonary fibrosis (Kropski et al. Chest 2014. 146:e1-e7)

We reported mechanisms of alveolar epithelial cell dysfunction in presymptomatic pulmonary fibrosis (Kropski et al. AJRCCM 2015. 191:417-26)

We discovered mutations in RTEL1 as a cause of FIP (Cogan et al. AJRCCM 2015. 191:646-55)

In 2017, we established the first recommendations for genetic testing and screening for patients or families with pulmonary fibrosis (Kropski et al. AJRCCM 2017. 195:1423-28)

Pulmonary Fibrosis

Vanderbilt Pulmonary Fibrosis Research Group

Research Focus

The Pulmonary Fibrosis Research group at Vanderbilt is a multidisciplinary team focused on improving treatment for patients with idiopathic pulmonary fibrosis (IPF) and other interstitial lung diseases.

The Vanderbilt Idiopathic Pulmonary Fibrosis Center is an internationally recognized center of excellence for patient care, education, clinical trials, and lung transplantation.

The Vanderbilt Pulmonary Fibrosis Research Group has a longstanding program working with patients who have familial or inherited forms of pulmonary fibrosis, a syndrome known as Familial Interstitial Pneumonia or FIP. These studies have provided crucial insights into the genetic causes of pulmonary fibrosis and molecular mechanisms of disease.

Current areas of research include:

  • Identifying genetic causes of pulmonary fibrosis in families
  • Improving methods for early detection of pulmonary fibrosis
  • Molecular mechanisms of telomerase mutations
  • Endoplasmic reticulum stress and lung epithelial cell dysfunction
  • Viral infection and adaptive immunity in pulmonary fibrosis
  • Rare lung diseases
  • Single-cell genomics of pulmonary fibrosis

Enrollment in clinical research studies is ongoing.