DNA mapping

[cathie]

Has anyone, including people at NRAS followed the reports about this? They're focusing on what it can do for identifying appropriate cancer treatment. But it could speed up the same for us and tackle the trial and error element which is so hard. I'm wondering what we can all do to get this targetted for us. Apart from the time element it sounds as though it'll save money too.

[cris1728]

Hi Cathie

I am seeing my rheumy tomorrow and have got some information from my last visit when they asked me if I would take part in a research project to which I agreed. This is looking at DNA profiles. I am just about to leave for an ultrasound appointment in preparation for tomorrows visit but will look at the info again and give you more info later.

(IACON project)

crisxx

[cathie]

Oh thanks good for you being in the trial

C

[cris1728 in reply to cathie]

Hi Cathie back from scan, they will have the results from that when I go to rheumy appt tomorrow so will know more then.

I am fortunate where I live in that there is a leading research facility. I am in Leeds and the LMBRU and LIMM are two search words you could use to look at the research they are doing.

The IACON study is the Inflammatory Arthritis CONtinuum londitudinal study.

hope youn find this info helpful

crisxx

[cris1728 in reply to cris1728]

ps they also have a patient and public involvement group and other research projects which they actively recruit to. Bimonthly meetings and presentations which are open to the public

crisxx

[cathie]

Im north of the border but im sure theres someone keeping up here. Ill search the leeds study

Thanks!

[Sailaway]

I'm not sure if what I've been signed up for is what you're asking about, it's different to the studies Cris mentioned. There's a South East Scotland bioresource project, where specimens of tissue and/or body fluids are collected for research. It's a bank of biospecimens for use in research and education, so drugs might be tested on the specimens, samples from healthy people might be compared with those from people with a disease, DNA might be sequenced - but if my DNA is sequenced I won't get to know it. When I was seen at the WGH in Edinburgh, after I consented to taking part, a research nurse took a brief history and blood sample.

On a similar vein, it looks like genetic information is looked at in the US. I've seen a few people talking about the hla b27 gene (but even knowing that doesn't seem to lead to certainty).

[cathie]

Yes I had this taken at the beginning of October at the same place. It may be a trial project? I've a friend who works in this kind of thing at the Kings Buildings and will ask her if she knows about it, and also my rheumy when I see her in January. If it helps to identify what will work for us that's very hopeful isnt it.

I will look out for you next time I'm at the WGH, but suspect there arent many people with pink helmets and goggles! C

[Hidden]

This is a bit different but it might connect Cathie. I don't know if you saw in the Guardian yesterday that MS research has confirmed that Orkney has the highest MS rate in the World? I was emailed by three different friends who were worried that I might have MS rather than RA!

The woman on the radio said apparently it's thought to be linked to DNA as much as sunlight/ Vit D deficiency now. Otherwise why would Shetland and other even more northern places not be as badly affected - and they are not.

The woman researcher explained that all the other hotspots for MS, which are dotted all over the world but are all in the Northern Hemisphere despite including one Mediterranean island, are part of the study. It appears that this autoimmune disease is probably connected to the lifestyles of several previous generations so it's thought that DNA must be the main factor. If this kind of much needed research is going on for MS then surely RA, which is more common in terms of ratio to population, should be similarly researched. Tilda x

[earthwitch in reply to Hidden]

Have you kept up with the Orcades study, Tilda? Its a multi-generation study of Orcadians to look at genetics of certain diseases. There have also been similar studies done in the West of Ireland. Both populations have a lot of autoimmune disorders, but the gene pool is quite small too, so it makes it really easy for scientists to determine which genes are implicated, when large numbers of the population share a lot of the genes, and the "disease-related" ones stand out more.

[Hidden in reply to earthwitch]

Yes - one of my closest friends knows the woman who has led the study so I'm aware of it but I think its seperate to the MS study isn't it? I'm sure that the latest MS research must tie in with it though what with the Westray gene and the links with DNA relating to MS incidences. Very interesting. I know my husband and sons were part of a study looking at hereditary hear conditions and I was involved in a Great Ormond St one relating to hereditary deafness.

Sadly I have no parents to ask about RA genes but I strongly suspect my maternal gran had RA but still wasn't diagnosed properly when she and my grandpa were killed in a car crash in their early 60s. I vaguely remember her taking me to a hospital with her when I was about 10 and I think she went to see a rheumatologist. I recall trying to spell out this long word with a silent H and also that she complained a lot about pain in her wrists, knuckles, elbows and most of all her shoulders. Tilda x

[Hidden in reply to Hidden]

Oops meant heart conditions!

[earthwitch]

They are doing a lot of DNA research with ankylosing spondylitis, but in some ways its far more important to understand the genetic basis for AS and spondyloarthropathy because they don't understand what kind of treatment really works for AS yet, whereas with RA they do understand how and what treatment works a lot more.

HLAB27 is the gene associated with spondyloarthritis, though its not as simple as that because a lot of folk with the gene don't get it, and quite a lot of folk with spondy are negative for it.

DNA studies are interesting, and its well worth consenting to have your DNA sequenced as part of a study, because it is all going to help in the end - either identifying treatments that work, or identifying people likely to get certain diseases and making sure they get treated early.

[cathie in reply to earthwitch]

YES, it suggests that there are ways forward people may benefit from, but a bit late for us. But I feel so much for those who report long delays in getting the treatment which works, and the reports about cancer last night suggested that might be a useful application. Slow progress I suppose!

[cathie]

Yes I thought of you when I saw the report and then noted that it was DNA which would suggest that it was intergenerational and not likely to affect you! I should write to NRAS to see if they have any pressure being organised to pressure the NHS to research the implications for us! XX Hope doggie is being good!

[Hidden]

Ah she's gorgeous thanks Cathie. I feel vaguely horrified that she's a pedigree dog though because the breeder has some funny ideas and it all smacks of eugenics a bit to me? The vet who just gave her the first booster jags said she's in good health and we had a bit of a heave about the fact that others from this litter of pups are all being spayed or neutered at 8 weeks. My vet thought this kind of sick and I'm glad we insisted our pup be allowed to go through one cycle and would probably be spayed at 6 months when she's fully formed. Its all a bit creepily weird for me - and makes me think even more about genetics and breeding. I prefer to think of her as a mutt like Fred really!

[cathie]

Mutts rule dont they! As a mutt myself...

I've been in a sort of half life after overdoing things this weekend. Have a scientist friend coming for mince pies and drinks tomorrow afternoon so I will quiz her on this DNA thingy.

[mistymeana]

Hi Cathie, I'm due to see the nurse at NOAR next week for my 20yr (!) anniversary check. I agreed to be part of their study group to try and identify genetic and environmental factors involved in all types of arthritis and formulate best treatments. Like other have said, figured that it might not directly benefit me but would those that come after me. Will try to remember to ask her about the DNA mapping but, with brain fog and impact of her poking all my sore bits to identify what hurts, I make no promises . Seriously though, they're very kind and gentle but not hugely looking forward to it.

[cathie]

It's good to be part of a study that might help. I've given blood for a big study, and was failed for a pilot of embril many years ago. Joints not inflamed enough. Hope your check up goes well

[cathie]

It's good to be part of a study that might help. I've given blood for a big study, and was failed for a pilot of embril many years ago. Joints not inflamed enough. Hope your check up goes well

[oldtimer]

I remember that they did a DNA study of people who worked in rheumatology departments several years ago, before tests became more sophisticated.

There were a higher number of people with HLA27 working in those departments than the general population, and this was linked with people having an interest in rheumatology because of a family member with symptoms - but it was on small numbers and I didn't think when I read the article that there were enough to make a definite link.

[cathie]

That's interesting though. I know a consultant in rheumatology whose mother had it. And there's definitely a predisposition in my family. C

[Victoria-NRAS Partner Moderator NRAS]

Hi Cathie

There are a number of trials currently working on trying to resolve this ‘trial and error’ approach that we currently have with medication. Some of these trials are looking at DNA, but some are looking at other possible contributory factors, such as lifestyle/environment. There are some theories that there may be different ‘types’ of RA and that learning more about the condition and differentiating between types might help with the medication (for example, we already know that patients with seronegative RA – ie those who are negative for rheumatoid factor are less likely to respond to rituximab than patients who are seropositive).

Here is some information about some studies looking at DNA & RA that may be of interest to you:

manchesterbrc.org/OurResear...

brighamandwomens.org/depart...

The following is another study, but as it’s the actual write up of their work, rather than a summary the results are a little too medical for me to understand!

onlinelibrary.wiley.com/doi...

There is research going on in this area, but I think until it starts to generate definitive results such as the ability to cater drugs to individuals (which many researchers are aiming to do), it is unlikely to make it into the public eye.

You will find that often there is more news in terms of RA research around the time of the big conferences that are held throughout the year. The major ones would be BSR (British conference), EULAR (European conference) and ACR (US conference). The next BSR conference, which NRAS always attend, will be 23rd – 25th April next year.

Kind regards

Victoria

(NRAS Helpline)

[cathie]

That's very helpful. When something does come up you can be sure that there will be a lot of support for it. Even for those of us who have been through various attempts to find a fit.

C