Defining the Genes/Variants Implicated in Pulmonary Fibrosis, and their Function, and Determining their Interaction with Environmental Exposures.
Leads: Prof Jo Dickinson and A/Prof Luke Knibbs
Central to delivery of precision medicine is the identification of high-risk genes that underpin disease causation. Such advances are transforming outcomes in other complex diseases. Recent advances, including by our team, show major roles for genetic predisposition in the cause of pulmonary fibrosis.
Beyond the established high-risk common variants, other genetic variants in genes essential for normal lung function have been identified, with rare high-risk variants revealed largely in familial studies.
Alongside these genetic advances, we now know that exposure to cigarette smoke and asbestos/silica are important environmental contributors to causing pulmonary fibrosis, and the impact of outdoor air pollution and SARS-CoV-2 are also emerging.
- We are leveraging ongoing research to identify additional novel high-risk genes and further characterise the functional impact of known genes.
- We are investigating interactions between pulmonary fibrosis genetic risk, environmental exposures and socio-economic factors.