Thread and Maze: The DecodeME Study
Early research findings and a direction of travel.
Medical research is rocking the ME/CFS world this month. For the first time, a study has generated results with the potential for making real progress on understanding this disease. Decode ME, in partnership with University of Edinburgh, released initial findings that point to the genetic causes of ME/CFS (synopsis, video, articles, and full paper linked at the end).
The study compared the DNA of 15,579 people with ME/CFS with the DNA of a control group of 259,909. They also relied on qualitative survey data of 26,901 volunteers with ME/CFS. Here are the main findings, quoted directly from the Initial DecodeME DNA Results page:
People with an ME/CFS diagnosis have significant genetic differences in their DNA compared to the general population. These lie in many places across the genome, and do not impact just one gene.
Eight genetic signals have been identified. As DNA doesn’t change with ME/CFS onset, these findings reflect causes rather than effects of ME/CFS.
The signals discovered are involved in the immune and the nervous systems, indicating immunological and neurological causes to this poorly understood disease.
At least two of the signals relate to the body’s response to infection. Other signals point to the nervous system, one of which researchers previously found in people experiencing chronic pain, reinforcing neurological contributions to ME/CFS. These signals align with how people with ME/CFS describe their illness.
The study was unable to identify specific genes most relevant to ME/CFS. It did find that the most likely culprits are those producing proteins that respond to infection and one associated with chronic pain. None of the genes are related to depression or anxiety.
The research team’s methods reached far beyond the small sample sizes of previous studies, and it drew on a well-established DNA database along with robust qualitative data. This makes the findings far more significant and potentially pivotal than anything that has come before.
In ancient Greek mythology, it is no accident that the word “clew” means ball of yarn, guidebook, and clue, all rolled (ha) into one. The Decode ME researchers may come bearing just these initial results. No matter. This dogged team is our Theseus unspooling Ariadne’s clew, laying down a thread that might guide us through this hellish maze to finally neutralize the beast and its bottomless appetite.
At last, we have insight into the biological roots and routes of our disease, which might mean discovering effective interventions for the illness itself rather than just its symptoms (when physicians take us seriously enough even for that).
At last, we have the beginnings of a biomarker which can help our doctors diagnose and – when and if medical care ever flows from this – treat us appropriately.
And at such long last, we have concrete, research-based evidence that the monster is not all in our heads.
You can imagine the chatter echoing through the ME/CFS world. So many questions!
How can we talk to our families and our care teams about this? Will medical practitioners take it seriously enough to take us seriously? Will this change our treatment – in all senses of the word – in any way, and how can we encourage advocacy to make sure it does?
How long might we have to wait for effective interventions? Ten years? Twenty? In our lifetimes, or those of our children?
Some of us, in our braver moments, even dare to imagine a cure. Just as many are unable to open up to this hope, having witnessed the medical research community and health policymakers fail us time and again.
It’s no surprise that this study did not come from America. US “leaders” are actively tearing down the infrastructures of science of any sort, to say nothing of science around a poorly-understood illness that primarily affects women (84% in this case, despite seeing no differences in gene presentation between genders). Maybe more fatefully, it promises no immediate pathway to profit. Our dreams of further exploration will continue to live in different corners of the globe.
As the rocking from this science-quake settles down, let’s not stop the chatter. We need to spread this news as far as it will go. And we need to continue urging our research heroes on as they unfurl the clews that keep us from giving up.
More about DecodeME:
Decode ME’s study site: http://decodeme.org.uk/
Preprint paper in Edinburgh Research Explorer: “Initial findings from the DecodeME genome-wide association study of myalgic encephalomyelitis/chronic fatigue syndrome.” (Clicking on the preprint link under “access to document” will direct you to a PDF)
Science article by Catherine Offord, August 6, 2025: “Possible genetic clues to ME/chronic fatigue syndrome identified in massive study.” (Article is behind a metered paywall, giving you a limited number of articles without a subscription)
The Guardian article by Ian Sample, August 6, 2025: “Scientists find link between genes and ME/chronic fatigue syndrome”
A synopsis from Action for ME: “Initial DNA analysis results.” (Action for ME is a UK-based organization providing support to people with ME/CFS)
Decode ME’s initial DNA results webinar on YouTube: “Decode ME: The ME/CFS Study”
That is amazing. Having more understanding of something really is helpful in and of itself. And in a condition such as that one where there is so much misunderstanding, suspicion and doubt, way more so. About the development of treatment, at least in the US, it depends on how many potential customers there would be for it. I have been consigned to the treating symptoms due to being in a small pool of potential customers. But from other pieces you have written, it sounds like you might be a fairly mighty group.