Published: 04 March 2020
An international collaboration led by NIHR Biomedical Research Centres (BRCs) in Leicester and Nottingham has discovered three genes that put some people at higher risk of an incurable lung disease called idiopathic pulmonary fibrosis (IPF).
IPF is a devastating lung disease where scar tissue builds up in the lungs. This scarring makes it difficult to breathe and half of all patients die within three years of diagnosis.
About 6,000 people are diagnosed every year in the UK, though this number appears to be rising. There are no cures for IPF and current treatments can only slow the progression of the disease. This means an improved understanding of what causes IPF is vital in the development of more effective treatments.
The research teams, which included collaborators from over 30 institutions across six countries, compared the DNA of 4,000 people with IPF to 20,000 people without IPF. In total they investigated over 10 million changes in the DNA.
The researchers found that people with IPF were more likely to have changes in three genes that have not previously been known to be involved with the disease.
The discovery of these three genes reveals biological pathways that crucially could be potential targets for new drugs.
One of these genes lies in a pathway that has recently been shown to promote fibrosis in the lungs. There are currently drugs under development that can target this pathway and might benefit patients. The other two genes highlight pathways not previously investigated for IPF but which might drive development of new treatments in the future.
Dr Richard Allen, Action for Pulmonary Fibrosis Research Fellow at the University of Leicester, said: “These are really exciting discoveries and improve our understanding of the disease. Hopefully this research will help in the development of treatments which are desperately needed for this devastating disease.”
Professor Louise Wain, British Lung Foundation Chair in Respiratory Research at the University of Leicester, said: “Genetic studies hold real promise in helping us find new treatments for IPF. This study was undertaken by a large international team of scientists and doctors and wouldn’t have been possible were it not for patients with IPF contributing their genetic data for research. The next step is to find out how these findings can enable us to find new and better treatments for IPF.”