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Interstitial lung diseases (ILD) are a heterogeneous group of rare diseases that are mostly severe. They share common pathophysiologic features including inflammation and fibrosis of the alveolar spaces leading to a chronic respiratory insufficiency. They can affect both children and adults but are more frequent in adulthood with an estimated prevalence of 80 / 100 000 individuals. The pathogenesis of ILD remains elusive. The current knowledge on chronic ILD suggests that most forms occur in genetically predisposed individuals exposed to deleterious environmental and comorbid conditions. Accordingly, observations of familial clustering of the disease have provided arguments for a genetic component to alveolar susceptibility and to the risk of ILD. In approximately 15% of familial ILD, genetic variants have been identified, mainly in genes involved in the telomere complex or in the surfactant metabolism. In sporadic ILD, rare and common genetic variants have also been reported.

Since 2014, we have obtained several key results in the frame of an international clinical research program dedicated to IILD classification and phenotypic description and in basic and translational research. A key finding was the identification of SFTPA1 as a novel gene involved in ILD and lung cancer and the assessment of the contribution of mutations in surfactant genes to ILD in a large cohort of patients1.

Our projects now aim to study the molecular basis of ILD (especially surfactant disorders genes), and the deleterious consequences of the identified mutations on lung homeostasis and fibrogenesis.


  1. Nathan, N, Giraud, V, Picard, C, Nunes, H, Dastot-Le Moal, F, Copin, B et al.. Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. Hum Mol Genet. 2016;25 (8):1457-67. doi: 10.1093/hmg/ddw014. PubMed PMID:26792177 .


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