Action for Pulmonary Fibrosis > News > Awareness > The 100,000 Genomes Project – an opportunity for IPF patients to be involved in important research

The 100,000 Genomes Project – an opportunity for IPF patients to be involved in important research


It is becoming apparent that up to 30% of pulmonary fibrosis patients’ have an inherited component to their disease.

Drs Jenkins and Parfrey, two of our trustees – are leaders in the field of IPF research in the UK – and are involved in research studies investigating the genetics of IPF as part of the 100,000 Genome Project and the UK Interstitial lung disease IPF (UKILD IPF) consortium.

By understanding the genetic components of pulmonary fibrosis it may be possible to identify people who are at risk of becoming sufferers in the future and preventing, or delaying the onset of symptoms.

Furthermore, these studies will also help to inform the development of personalised medicine for IPF.

Better understanding of how genetics may affect both IPF disease progression and response to treatment are extremely valuable because it will prevent patients being exposed to potentially toxic treatments as well as minimising waste in the NHS by ensuring only patients likely to get benefit from treatment are exposed to the risk of treatment.

What is the 100,000 Genomes Project?

If you have Interstitial Lung Disease (including Idiopathic Pulmonary Fibrosis) then you may be able to take part in this project to help create a new genomic medicine service for the NHS – transforming the way people are cared for.

The 100,000 genome project will take genetic testing to a new level using whole genome sequencing to look at your entire DNA.

This research may help patients be offered a diagnosis where they haven’t been able to get one before and in time, there is the potential of new and more effective treatments, including novel therapies that are developed around replacing mutated genes or the missing proteins caused by a known gene mutation.

To find out more please look at the website and ask your respiratory consultant next time you are in clinic about getting involved.

This nationwide project is now ‘live’ and if you would prefer to get information sooner than your next clinic appointment, then please do contact your respiratory Consultant for more information about how to get involved.

There are lots of helpful videos on the website including some from patients who have already taken part.


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