Saturday, April 25
15:15 – 16:45

Session Leads

Dr. Bruno Crestani

Professor of Pneumology at the Paris-Diderot University

Steve Jones

Action for Pulmonary Fibrosis Representative

Genotype and phenotype of IPF

Familial pulmonary fibrosis is defined by the identification of two or more patients with pulmonary fibrosis in one family, a condition that is observed in about 15% of IPF patients. Numerous genes have been associated with the risk of developing pulmonary fibrosis. The identification of these genes allowed us to better understand the pathophysiology of IPF and to develop the genetic diagnosis as a clinical tool. The objective of this session will be to present the state of our knowledge on genetic susceptibility to pulmonary fibrosis, to describe the phenotypes associated with the genetics forms of pulmonary fibrosis, to discuss the consequences of a diagnosis of genetic fibrosis from a patient perspective, and offer some perspectives in terms of genetic counselling.

Key Topics

The session will focus on familial pulmonary fibrosis. We will discuss the current tools for genetic testing, the genes involved, the phenotypes associated with these genes, the consequences in terms of screening, early diagnosis, genetic counselling, and personal consequences for the patient and his family of the detection of a gene mutation associated with a susceptibility to pulmonary fibrosis.

Session Format

The session will start with a keynote speaker followed by patient testimonials and a live Q&A with the audience.


Dr. Bruno Crestani

Professor of Pneumology at the Paris-Diderot University

More coming soon

 Please note that the programme is still updated on a regular basis until finalised.