We received an email today from the 100,000 Genomes Project. The research is looking at some of the less common lung conditions (they’re looking for people with non-CF bronchiectasis, interstitial lung disease, vascular lung disease and primary ciliary dyskinesia in particular). Also there are centres taking part all over the country.
I thought some of you might find it interesting, so I’ll copy and paste the information we were sent below, along with the links in case you want to find out more.
“This project is trying to create a new genomic medicine service for the NHS – transforming the way people are cared for.
People with rare lung diseases may not have been given a genetic diagnosis, even if they’ve had genetic testing. This is because current genetic tests only screen for a number of known mutations.
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 to get a diagnosis and in time, there is the potential of new and more effective treatments.
To find out more please look at the website genomicsengland.co.uk/ and talk to your respiratory consultant about getting involved.
There are lots of helpful videos on the website including some from patients who have already taken part.
Thanks for reading and, if I don't speak to you before, I hope you all have a lovely Christmas and a very happy New Year.