DecodeME - UK ME/CFS DNA study underway

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A big German newspaper mentioned the DecodeME study today (translated):
The first models for large-scale projects already exist. In the UK, a study is now underway to genetically examine the saliva of 20,000 ME/CFS sufferers. The aim is to find out whether the disease is partly due to genetic causes.
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https://translate.google.com/translate?hl=de&sl=de&tl=en&u=https://www.berliner-zeitung.de/gesundheit-oekologie/chronische-krankheit-mecfs-betroffene-fordern-einen-runden-tisch-in-deutschland-li.89592
 
I noticed that at the website it says this:

Can people who have improved or recovered participate?

Those who pass the Canadian Consensus or Institute of Medicine criteria can participate. Following these criteria to the letter (as we will do) unfortunately means that those who are fully recovered will not be able to participate. This is an unfortunate but inevitable consequence of the need for us to fully comply with these criteria.
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I have no problem with this. I can understand how including people who once met the criteria - but who no longer do - could introduce uncertainties (though presumably no one's genome changes due to either onset or improvement).

At some point in the future, though, it might make sense to sequence the genomes of those who have improved. Finding differences between criteria meeting cases and controls could provide clues about how the disease comes about, but it's also possible that finding differences between cases, controls and those who've improved could provide clues about what might have led to that improvement.

[Also, if there's a genetic signature common to those who meet the criteria, that could be used to "verify" whether the improved individuals likely did meet the criteria at one time - although you could always have such a signature without ever having developed ME/CFS.]
 
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Jaybee00 said:
I know I'm a minority opinion on this, but I do not support having PEM as a mandatory symptom (Yes, I know PEM is required under CCC and IOM). I'm 100% sure I have the syndrome of ME/CFS. I am not 100% sure I have this acute PEM thing. If I have a day with 10,000 steps, the following day(s), I am not guaranteed to be "crashed" and completely bed-bound for days. In general, I have days and periods when I am worse than others, but I am not sure I reliably have this acute PEM symptom. If I was applying for to be a part of this study, I would probably say that yes I have PEM, but I am not really sure if I have PEM as others describe it.
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I know we are going off topic a bit here, but you summarised my thoughts and experience. I feel as though PEM is often described as something that is well understood and characterised, when it isn't. I seem to have a semi-regular fluctuation of symptoms that is not fully-described by my activity levels, or exertion. That's not to say there is no correlation. This is against a backdrop of illness that I don't think would resolve if I completely rested for weeks or months.

Furthermore, I feel many pwme give too much credence to their activity levels and how they attribute their crashes or better periods to activity levels or exertion. You will always find something if you are looking for it. Was it the walk, or watching TV. Maybe it was the gluten I ate, or maybe my neighbour's house is moldy! It is my personal view that many of us have less control over our symptoms than we think.

Edit: Added more descriptive sentences.
 
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lunarainbows said:
So I was just speaking to my partner who; is lovely but also goes through life with a much more cynical / “pessimistic” attitude than me, (opposites in ways!), in the sense that by doing that, he doesn’t get disappointed all the time and feel sad - as he says, expect nothing and then you won’t be sad. Which I totally understand especially if life is difficult.

Well, in his usual manner, he said “better not to be too excited just yet because what if it doesn’t show something, and then you might get too sad” And I got a bit deflated. Was wondering if anyone here could perhaps provide insight (ie reassure me... lol), that the study most likely show something... do we have preliminary results that show there likely is some sort of genetic signal in ME, already?
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Because its a genome-wide association study, the approach won't be the usual "Is there a significant difference or not?" It will be "Which associations are strongest, and which ones survive when we correct in various ways?" So there will almost certainly be something to report from the results. The question is only what, and how reliable the associations will be.
 
Sasha said:
My understanding is that this - each of many mutations raising risk slightly - is the norm for many diseases and the idea is to identify the biological systems that those SNPs are grouped in, to home in on the cause.

From the DecodeME FAQs:
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Yes, mine too. You find the set of positively associated SNPs, and then you look at the degree of overlap between this set (the genome "signature" if you like) and those for other diseases. So its a sort of way of making indirect arguments about the associations between different disease trajectories, without the having to deal with the strong contaminating effects of environmental factors.

strategist said:
I would like to know how a GWAS can assist in separating the multiple diseases which are by many thought to be grouped under the ME/CFS label.

When GWAS results are dicussed, what is usually shown is a Manhattan plot. When that plot shows many different gene associations, the usual interpretation given appears to be that there are many genes that each confer a small increase in disease risk and that the disease in question must be very complex.

But what if the disease in question is actually several diseases which aren't as complex and don't have that many involved genes? Is there a way to figure out if certain combinations of genes tend to appear together, indicating perhaps the existence of multiple diseases? Are there other ways to separate such subgroups in a GWAS?
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I am worried about this too. It seems to me, everything comes down to the integrity of the disease definition. I know lots of people here think that having PEM as an inclusion criterion will help narrow the group to a single disease, I'm less convinced that PEM is specific to a single disease (still think that even severe PEM might have muliple potential causes).
 
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I have been thinking about the PEM thing. A lot of the problem comes down to words and how we use them. When ME became CFS, many new patients spoke about the disease in a different way than I was used to. For one thing, they all spoke about fatigue which had not really been a big part of talking about the disease before, more a sort of in passing thing like with MS.

I wondered if it was because being told that fatigue was the important thing they were calling things fatigue when I would not have used that word to describe what I experienced. So if I was forced to spend all afternoon lying in bed I would have said I felt too ill to get up because of a flu like feeling but now someone would assume they were experiencing the extreme fatigue of CFS. Not saying they were wrong just that the language of the discussion changed with the name change while the symptom remained the same.

What we call PEM is unique to ME but PEM may not convey that set of symptoms so that others see it properly.

One description of ME is being able to lift a heavy bag of potatoes once but not a spoon to your lips five times. That problem with repeatability may give a better insight into what is going wrong for us in a way that can't be interpreted wrongly by nonsufferers who think they know what fatigue feels like and post exertional malaise.

I was reduced to a complete inability to move by twiddling a radio knob for 5 minutes, which is not normal and definitely not deconditioning. When I first needed my wheelchair, my husband would push me along a pleasant route for an outing. There were 2 steep bits where I would get out and walk pushing my chair. Friends were amazed that I could walk 6 or 7 steps almost vertically exactly the same as on the flat. It was the number of repeats that counted not effort.

This repeatability would be easier to test and experiment with than CPET testing with less risk. Maybe we are still interpreting things as due to fatigue because of the name. This forum is probably the only place where we could talk all round this and try to find a clear way to describe our disease and its relationship with energy use.
 
Mithriel said:
I have been thinking about the PEM thing. A lot of the problem comes down to words and how we use them. When ME became CFS, many new patients spoke about the disease in a different way than I was used to. For one thing, they all spoke about fatigue which had not really been a big part of talking about the disease before, more a sort of in passing thing like with MS.

I wondered if it was because being told that fatigue was the important thing they were calling things fatigue when I would not have used that word to describe what I experienced. So if I was forced to spend all afternoon lying in bed I would have said I felt too ill to get up because of a flu like feeling but now someone would assume they were experiencing the extreme fatigue of CFS. Not saying they were wrong just that the language of the discussion changed with the name change while the symptom remained the same.

What we call PEM is unique to ME but PEM may not convey that set of symptoms so that others see it properly.

One description of ME is being able to lift a heavy bag of potatoes once but not a spoon to your lips five times. That problem with repeatability may give a better insight into what is going wrong for us in a way that can't be interpreted wrongly by nonsufferers who think they know what fatigue feels like and post exertional malaise.

I was reduced to a complete inability to move by twiddling a radio knob for 5 minutes, which is not normal and definitely not deconditioning. When I first needed my wheelchair, my husband would push me along a pleasant route for an outing. There were 2 steep bits where I would get out and walk pushing my chair. Friends were amazed that I could walk 6 or 7 steps almost vertically exactly the same as on the flat. It was the number of repeats that counted not effort.

This repeatability would be easier to test and experiment with than CPET testing with less risk. Maybe we are still interpreting things as due to fatigue because of the name. This forum is probably the only place where we could talk all round this and try to find a clear way to describe our disease and its relationship with energy use.
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this
 
Sasha said:
Just curious - why is that bad?
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It’s hard to read full stop for me. The ME Association magazine is on paper and I struggle with that. I don’t see why single column would have smaller font size. Products designed to be printed out and read online should all be designed to accessible - there are guidelines on how to do this. It is not rocket science.
 
Dolphin said:
Having thought about this, I’m not convinced. One column means the effective size of the letters would be lower than two column pages.
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Here's an example of what I was saying. Compare the effective size of the words in the abstract on page 1, when fitted to the width of the page in comparison to the 2 columns underneath, when one adjusts the width of the columns to the width of the device. And the effective size of single columns would be smaller again without the bit along the side.
 

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