Still to open Recruiting patients to provide details from existing genetic data for dissertation- any age, country, sex, gender etc.

R

Rachelsmallfry

Established Member
I am a university student (with ME/CFS) and about to begin my undergrad dissertation. I am looking for participants with M.E/CFS and/or fibromyalgia who have had their genome mapped and will have access to the data. I have draw up a questionnaire with information on how to retrieve the information from websites such as ancestry and 23andme and have included my university email.

What I am researching:
The gene COMT: COMT is involved in processes that break down adrenaline and noradrenaline (epinephrine and norepinephrine in the USA), and dopamine. My M.E/CFS practitioner has noticed her patients who have done specific genetic reports all have downregulated forms of the gene, meaning that they do not break down adrenaline or dopamine efficiently. It intrigued me, though I am only in the early phase of this line of research. I am happy to keep updating as I learn more if this is an area I can pursue.

Whilst all genetic research relating to M.E is only going to be so useful (I don't believe in there being definitive genes in regards to M.E because it can be caused by so many things) genetics is an area of interest to me (though not an area of research, I hope to go into genetic counselling if I ever get well enough).

What participation I am hoping for:
Individuals to fill in a questionnaire regarding their symptoms and the nucleotide pairs for two gene loci: rs4633, and rs4680.
I would like as many people as possible to take part as that would improve the accuracy of the data (if it leads to anything).

Ethics and data protection:
So far I am seeing if I can garner interest and gather enough people who are willing to participate for my this line of research to go ahead.

Data gathering will not take place until my advisor (and if necessary an ethics board) has approved the HREC ethics and data protection paperwork (in compliance with GDPR)

I am new to this so apologies, and thank you for all the advice. It is helping guide me while I wait to be allocated an advisor.

Thanks for your time!
 
Last edited:
Welcome to the forum @Rachelsmallfry. Good on you for bringing your expertise to the ME/CFS question and thank you for joining the forum.
Can you tell us who your supervisor is please? If you feel willing to share who your specialist is too, that would be great.

I've added a COMT tag to this thread. There are a few threads labelled with the COMT tag on the forum. But, I'm assuming you are aware of the DecodeME project? I can't recall COMT coming up in the results, and it did look at chromosome 22 and had a very good sample size. Doesn't that make it likely that COMT variations aren't relevant to ME/CFS? Can you tell us something about how you think your study will tell us something that DecodeME could not?

I see that COMT has been characterised as the 'warrior: worrier' gene.

In your survey, you ask people 'Have you experienced adrenal fatigue or burnout?'. How would someone know if they have experienced adrenal fatigue or burnout? As far as I am aware, and perhaps I'm wrong, adrenal fatigue and adrenal burnout aren't medical terms, and tend to get mentioned in pseudoscience sources. I'd like to hear why you think the question is a useful one.
 
Welcome @Rachelsmallfry, you will find a lot of interest here in genetics and there are quite a number of relevant threads you might want to look at, especially in relation to specific locations raised as of interest by the DecodeME study. Several members here were actively involved in that study.

We include here active researchers, some with ME/CFS, like yourself, and some very informed patients. Discussion here can be very robust, but that hopefully does not make individuals feel uncomfortable, as we all ultimately want to push forward our understanding of our condition. Also it is so important that we have young scientists looking to develop their research interests in this field.
 
Hi @Rachelsmallfry,

It seems reasonable to try to replicate an anecdotal finding on gene variants. As has been said DecodeME might be expected to give us a pretty reliable answer but it is possible that it would miss these variants I suppose. Do you have information on that, in term sof the SNPs nearby that were studied?

I wonder about bias in reporting here. People may be more likely to respond if they have genetics reports identifying gene variants. It might even be that people who get genetics studies done are more likely to have certain COMT variants. And of course there might be demographic bias in populations contacted online. Have you been able to gauge the likelihood of confounding effects of this sort?
 
I am assuming you are interested in people with the relevant data participating from any where in the world, but it might be worth making that more explicit.

I suspect it is probably too late for this project, but we do fairly often prove advice on how researchers draft their material so that it is accessible to the widest range of people with ME/CFS.
 
Hutan said:
Welcome to the forum @Rachelsmallfry. Good on you for bringing your expertise to the ME/CFS question and thank you for joining the forum.
Can you tell us who your supervisor is please? If you feel willing to share who your specialist is too, that would be great.

I've added a COMT tag to this thread. There are a few threads labelled with the COMT tag on the forum. But, I'm assuming you are aware of the DecodeME project? I can't recall COMT coming up in the results, and it did look at chromosome 22 and had a very good sample size. Doesn't that make it likely that COMT variations aren't relevant to ME/CFS? Can you tell us something about how you think your study will tell us something that DecodeME could not?

I see that COMT has been characterised as the 'warrior: worrier' gene.

In your survey, you ask people 'Have you experienced adrenal fatigue or burnout?'. How would someone know if they have experienced adrenal fatigue or burnout? As far as I am aware, and perhaps I'm wrong, adrenal fatigue and adrenal burnout aren't medical terms, and tend to get mentioned in pseudoscience sources. I'd like to hear why you think the question is a useful one.
Click to expand...
Hi Hutan, thanks for the welcome!

These questions are preliminary and subjective for the most part, aimed at judging people's symptoms even if they haven't got an official diagnosis. When I first got ill I researched adrenal dysfunction and adrenal fatigue because my GP was... to put it mildly- useless. I did a cortisol level test and it was extremely useful, though nothing I could do through a GP as it isn't addison's disease. It was just the first step in trying to understand my own body.#

I am in the very early stages of my research. Before I get more underway I wanted to make sure I was able to get enough data for pursuing this area of research. I hammered out the questionnaire pretty quickly. I am still waiting on finding out who my tutor is for this module.

I study with Open University so it is structured slightly differently, and as I am at undergrad level I don't have a thesis supervisor. I see someone called Gail Sumner in the UK. I call her a specialist because if I refer to her as a physio or nutritionist people scoff- it's become habit and I realise it is misleading as she is not a medical professional.

She is qualified in a lot of areas and is constantly researching and getting more qualifications. She does the Perrin Technique, physiotherapy, craniosacral therapy, numerous holistic treatments and has various qualifications I forget. She is genuinely fascinated and passionate about learning more about the condition. I got my genome mapped and used specific reports based on her advice (including a report on MTHFR but there is already a huge amount of research into methylation, and it is such a broad area) and I trust her.

In the past I have stayed away from being too involved in the world of M.E/CFS because I don't want it to dominate my life (more than it already has) but after my most recent session with her I was discussing how I wanted to do research into M.E/CFS and pick a specific gene and how after looking at recent reports and my genome and she suggested COMT. I trust her, so I thought why not!

Sorry if my answers are vague! studying burns me out massively and my brain is mush right now. I hope that at least to some degree answered your questions.

I did look at the DecodeME project, yes. I think that in the vaguest of terms M.E and most chronic illness is caused by 'stress', whether that be emotional, mental, biochemical etc. some people get M.E/CFS after a particular virus, though for me it was after a prolonged period of mental health problems, combined with some genetic components and other poor lifestyle choices. I think of the condition the same way you might say 'my PC crashed'. The body isn't working properly and it has affected every system but there are so many reasons it could be malfunctioning. I could look into mitochondrial function because of the energy issues but I was intrigued by COMT.

I am only one person, doing an undergrad dissertation, so my paper will not be mind blowing! I am just hoping to find individuals who will be kind enough to help me with my paper and I am happy to share the results. I don't have huge expectations for them but who knows!

Rachel

crikey that's long
 
Last edited:
Peter T said:
I am assuming you are interested in people with the relevant data participating from any where in the world, but it might be worth making that more explicit.

I suspect it is probably too late for this project, but we do fairly often prove advice on how researchers draft their material so that it is accessible to the widest range of people with ME/CFS.
Click to expand...
My aim right now is just to gather as much information as I can. Really it doesn't matter what age people are, their sex at birth or where they are from. The hardest part of the research I figured will be obtaining the data so I am just open to receiving help.

I haven't even started writing my report, once I have done it for university I am more than happy to share my findings (or lack thereof) in a way that is succinct and readable. I am only an undergrad student so I will not be making any profound medicine changing discoveries (unfortunately).
 
Rachelsmallfry said:
I am just hoping to find individuals who will be kind enough to help me with my paper
Click to expand...
I think you’ll find people on the forum who will. We tend to be a bit critical but I think that’s helpful in the long run to improve quality of research :).
Rachelsmallfry said:
I don't have huge expectations for them but who knows!
Click to expand...
Negative results are very valuable as well. And someone who pursues a theory not to get another grant but to actually try figure out the reality is in a good position to advance our understanding with negative findings. (Or even positive! But with ME thats the exception not the rule ahhaha).
 
Hi and welcome!
Rachelsmallfry said:
yes. I think that in the vaguest of terms M.E and most chronic illness is caused by 'stress', whether that be emotional, mental, biochemical etc. some people get M.E/CFS after a particular virus, though for me it was after a prolonged period of mental health problems, combined with some genetic components and other poor lifestyle choices.
Click to expand...
What’s the basis for this belief? As you say it is very vague, and it reminds me like what the BPS proponents talk about with regards to functional disorders, bodily distress, persistent symptoms etc.

Sidenote: do you have ethical approval for this research project?
 
Utsikt said:
Hi and welcome!

What’s the basis for this belief? As you say it is very vague, and it reminds me like what the BPS proponents talk about with regards to functional disorders, bodily distress, persistent symptoms etc.

Sidenote: do you have ethical approval for this research project?
Click to expand...
Hi =]

Oh gosh, well I mean 'stress' is responsible for a lot of illness, but from my own experience and that of others, from research I have read and from studies. There is no one thing that really made me have a 'lightbulb' moment, though I did do the ANS rewire programme, and before that looked at amygdala reprogramming (but the Dr who led it annoyed me, and it felt so slow and was giving nutritional advice that I wasn't a fan of).

ANS Rewire in particular struck a chord with me (if I remember correctly, but my memory is not very reliable). The topics of stress and the condition in itself are so vast and wide ranging, I don't think it is possible to find just one answer. Personally it was a combination of physical and emotional stress that led to my illness. Mental conditions such as anxiety and depression put an incredible toll on the body physically with prolonged cortisol production and it depletes the body of resources. Again, sorry for being vague!

I hadn't heard of BPS until just now- did a very cursory google. People who focus solely on emotions are... it feels very much like 'it's in your head' territory- is that what that theory is like? I was given CBT therapy through the NHS when I got my diagnosis and I didn't see the point and was asking about what other interventions there were like testing b12 levels and supplementation and whatever else my perfectionist self had researched at the time.

Whilst I agree that emotional stress have physical consequences I don't mean stress in purely the emotional sense, but in terms of the body generally being under strain (again, vague I know!) and the biochemical components, the hormones, neurotransmitters etc.

My module hasn't officially started yet and I have yet to speak to my tutor/advisor as I haven't been told who they are (frustrating as I want to get going!), Open University seem to do things a little differently. It is purely self driven and entirely reliant on me doing the work so. I looked at trying to find pre-existing data but as I do not have research experience and am not doing a PhD or am not part of a research team I am not eligible for getting data from bigger organisations (such as DecodeME).

At the moment my aim is seeing if I can get sufficient data for this project to go ahead.

I can't seem to finish my trains of thought, I better come back tomorrow when I have had time to mentally recharge!
 
Utsikt said:
Hi and welcome!

What’s the basis for this belief? As you say it is very vague, and it reminds me like what the BPS proponents talk about with regards to functional disorders, bodily distress, persistent symptoms etc.

Sidenote: do you have ethical approval for this research project?
Click to expand...

Jonathan Edwards said:
An important point.
There is also the issue of holding personal data - which normally needs careful curation to be legal and ethical.
Click to expand...

I have managed to find the information on the uni website. Sorry I am so scatterbrained keeping up with my other module.

The university has provided me with paperwork to ensure all ethical requirements are met and regarding data protection. I just need to personalise the paperwork for my own study. Once I have communicated with my tutor/advisor I will know for sure that this type of research can go ahead and if the legal and ethical requirements are met.
I have edited my post to include this information and removed the questionnaire for now
 
Last edited:
Thank you for elaborating. You don’t have to share more personal info than you’re comfortable with, which might be none at all.

Edit: I’ve removed a badly worded and not suitable question.
Rachelsmallfry said:
The university has provided me with paperwork to ensure all ethical requirements are met and regarding data protection. I just need to personalise the paperwork for my own study. Once I have communicated with my tutor/advisor I will know for sure that this type of research can go ahead and if the legal and ethical requirements are met.
Click to expand...
Does that mean that you have to apply for approval? Who would evaluate the application?

From your document it’s clear that you’re already asking for people to send you their data. Are you sure you can do that yet? (Edit: I see you removed it. Has it been shared elsewhere?)

With regards to privacy concerns, at least in the EU, genetic data is considered very sensitive personal information. I don’t know where you’re located, but I would personally need a lot more info about data handling before I’d be comfortable participating for myself if I had done genetic testing.
 
Last edited:
Utsikt said:
I don’t know where you’re located, but I would personally need a lot more info about data handling before I’d be comfortable participating for myself if I had done genetic testing.
Click to expand...
I mostly agree. But to be fair they aren’t asking for your whole genome just two SNPs and their document seemed to have a decent privacy protocol.

I agree their university should have an ethics board approving this kind of stuff but it doesnt sound like its common practice there (which is actually pretty common across many unis who dont treat undergrad projects as seriously).
 
Yann04 said:
I mostly agree. But to be fair they aren’t asking for your whole genome just two SNPs
Click to expand...
They say you can send them their entire genetic file if participants can’t find the genes themselves.
Yann04 said:
and their document seemed to have a decent privacy protocol.
Click to expand...
There’s some info, but I couldn’t find anything about secure storage, upper limit for how long it will be kept if the project stretches out in time. Or steps taken to ensure anonymity.
Yann04 said:
I agree their university should have an ethics board approving this kind of stuff but it doesnt sound like its common practice there (which is actually pretty common across many unis who dont treat undergrad projects as seriously).
Click to expand...
Even more reason to ask questions then.
 
Would it be feasible for an undergraduate project like this to simply ask people not to reveal their real name. So they would fill in the questionnaire on a something like survey monkey, using a pseudonym of their own choosing. Does that get around the ethics problem?

I assume there would not be any intention to try to publish in a scientific journal, more to learn about how to design questionnaires, and collect and analyse data.

Maybe you need to wait until you have started the course and got approval from your tutor before you settle on exactly what you are researching.

Can you tell us which OU course it is?
 
Genetics PhD here. Amazing that you are choosing to do a project on this. Do a power calculation first to see the sample size you need to be able to answer your question, and see if you can actually collect this number of individuals. My guess is that the number of people you'd need to respond is going to be really high, and you might not be able to recruit this many people. Depending, consider trying to get access to decodeME, UK Biobank, All of Us, or PrecisionLife to ask your question.
 
You must log in or register to reply here.
Back
Top Bottom