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Genetics of IPF

Genetics of IPF

Genetic factors

Early diagnosis before the lung is irreversibly scarred is important and can help IPF patients manage their condition. There is evidence that the disease may be present for up to 10 years before a clinical diagnosis of IPF is made. For the past 20 years,
we have been studying IPF by collecting cases of both sporadic and familial IPF to study the genetics of IPF. We have determined that there is a strong genetic basis for the disease identifying at least 10 high-risk gene variants.

  • – We have identified multiple genes involved in Idiopathic Pulmonary Fibrosis.
  • – These genes are more likely to be changed in people with pulmonary fibrosis.

Causes of pulmonary fibrosis

There are many diseases that cause pulmonary fibrosis, and determining the precise diagnosis for each individual and the mechanism that causes fibrosis has been challenging.

Broadly defined categories of fibrotic lung diseases are:

  • – Environmental exposures
  • – Drug-toxicity
  • – Systemic autoimmune diseases with pulmonary fibrosis as a component such as scleroderma and rheumatoid arthritis
  • – Idiopathic (unknown cause)
  • – Interstitial pneumonias (several subtypes IPF being the most common)
  • – Inflammatory lung disease such as sarcoidosis
  • – Genetic disorders that have pulmonary fibrosis as one of many affected organs (Dyskeratosis Congenita, Neurofibromatosis, Hermansky-Pudlak)

While it has been recognized that genetics contributed to the latter group of diseases, only more recently has it been recognized that genetics contributes to many types of pulmonary fibrosis.