Evolving genomic approaches to idiopathic pulmonary fibrosis: moving beyond genes

Clin Transl Sci. 2011 Oct;4(5):372-9. doi: 10.1111/j.1752-8062.2011.00287.x.


A little more than 10 years ago, the completed sequencing of the human genome boldly promised to usher in an era of enhanced understanding and accelerated development of treatments for most human diseases. Ten years later, many of these therapeutic goals have not been reached, but genomic technologies have dramatically enhanced our understanding of how genes and gene networks contribute to the pathogenesis of disease. In this review, we describe how genomic technologies have shaped our study of idiopathic pulmonary fibrosis (IPF), a devastating, progressive scarring of the lung parenchyma, a disease without a known cause, or treatment. We frame the important genomic discoveries in IPF of the previous decade in the clinical context of establishing a diagnosis of IPF and predicting the prognosis. Gene expression profiling of peripheral blood will help identify potential biomarkers for assessing the clinical severity of IPF. We highlight the growth of epigenetic research in IPF, including the contribution of microRNAs to the pathogenesis of disease. We suggest that the full power of genomic discoveries in IPF will be realized when researchers apply these techniques prospectively in large collaborative studies across institutions, support the training of young investigators in genomics, and employ systems biology approaches to the interpretation of genomic data.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epigenesis, Genetic
  • Genes / genetics*
  • Genomics / methods*
  • Humans
  • Idiopathic Pulmonary Fibrosis / genetics*
  • National Institutes of Health (U.S.)
  • United States