Interstitial Lung Disease: Pathophysiology and Genetic Predisposition

Penelope A. Lympany, PhD, and Roland M. du Bois, MD, Imperial College of Science, Technology and Medicine, London, UK

In This Article


In the past decade, there have been considerable advances in the assessment of genetic susceptibility to diffuse lung disease. Genetic technology now available has made it possible to link disease susceptibility with markers in the human genome, which will allow us to identify the patients at highest risk. Early clinical intervention would be of considerable benefit for these patients.

It is easy to speculate on the possibilities of gene therapy in diseases in which an aberrant single gene causes defects in homeostasis, although no single or primary aberrant gene has yet been identified in diffuse lung disease. In addition, the identification of risk factors has important implications for the initiation of close disease monitoring and for treatment at an early stage of disease when this would be most effective. Ultimately, genetic transfer technologies, including targeted gene therapy, could be used to reverse the biological consequences of the genetic predisposition.[192]


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