Genetic research into rare lung conditions

[BethanyBateman]

Hi guys,

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. youtube.com/watch?v=o1XYgva...(Not working as expected?)

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.

Bethany

[Pentreath Volunteer]

HI Bethany

Have just checked the rare disease list on the site and there is no mention of Non CF bronchiectasis - or have I missed it.

Pentreath

[BethanyBateman in reply to Pentreath]

Hi Pentreath,

I haven't looked extensively at the website but non-CF bronchiectasis was one of the conditions that they told me they were looking to recruit when they emailed us. I think if you chat to your consultant then they should be able to tell you more.

[Pentreath Volunteer in reply to BethanyBateman]

Thank you Bethany, I will contact my consultant.

Pentreath

[Hidden in reply to Pentreath]

Hi Pentreath - NCFBE is definitely listed as one of the rare diseases. It's on page 2 under "Respiratory ciliopathy phenotypes". They seem to have a fairly loose definition of rare as many of the conditions listed are probably not what you & I would really call "rare"!

[Pentreath Volunteer in reply to Hidden]

Hi Hanne - thank you - I looked at the list of the conditions they were looking for and it was not there so did not look further. I will now contact my consultant.

[katieoxo60]

Enjoy your Christmas Bethany, and look forward to a a Happy new year . Thank you for the links

[BethanyBateman in reply to katieoxo60]

Merry Christmas to you too Katie!

[Offcut]

Lucky if I can get my Practice to agree to any blood test let alone one with someone outside the NHS.

If I mentioned Genome Project I am sure they would think it was to do with small people with tall red hats and fishing rods

Be well

[SquirrelsHolt]

Interesting reading Bethany,although not appropriate for myself,but wishing you a Merry Christmas and a Happy New Year.

[BethanyBateman in reply to SquirrelsHolt]

Happy New Year Squirrels! I hope you had a lovely Christmas too!

[flo1]

No sign of alpha one antitrypsin deficiency either! Find that startling!! As we are most likely the most non recognised disease classed as rare out there...? I have questioned my Consultant maybe he can find out more on this....lets hope so.