Researchers behind the world’s largest study of chronic fatigue syndrome, also known as ME, are hoping to tackle the “stigma” associated with the disease as well as working towards potential treatment.
It comes as the team behind DecodeME urged more people living with myalgic encephalomyelitis (ME) to sign up as a participant before the November deadline.
DecodeME is aiming to find a genetic cause of the condition which is estimated to affect 250,000 people in the UK.
Symptoms include extreme tiredness, problems sleeping and problems concentrating.
It is not known how ME is caused, but suggested triggers include genetics, infections, immune system problems and hormone imbalance.
Prof Chris Ponting, from the University of Edinburgh, is leading DecodeME. He describes it as a “disease for which we know almost nothing”.
“We don’t know what causes it, we don’t know how to properly diagnose it, we don’t know how to manage it symptoms well, and we certainly don’t know how to cure it,” he told the PA news agency.
“This study is foundational. It’s not going to quickly lead to a drug or an effective therapy, it’s trying to find out what is going wrong in so many people with ME.”
DecodeME is hoping to test 20,000 individual DNA samples from people living with ME, with the deadline to register on November 15.
Those who wish to participate must be over 16 and live in the UK.
Prof Ponting hopes exploring genetics will allow his team to “find the unexpected”.
He said: “Perhaps it is what some people expect – some defect in the immune system or nervous system or mitochondrial disease. It may yet be something else that has never been suspected, never been investigated.
“And that’s the key thing. Finding what is going wrong will allow a very narrow focus in the future. On what is the actual thing that’s going on. Because only then will there be drugs that will be developed towards its cure.”
He is hopeful a discovery will be made in 12 months, adding: “That’s the first outcome. The second outcome is less scientific – people can take the knowledge that there is something clearly identifiable that comes from their DNA that contributes to ME risk and explain to people that the science has shown it’s not all in their mind.”
Prof Ponting said stigma is a “huge issue” in the ME community.
He added: “The stigma of this disease means that there are many people who do not report having the disease, do not go and try and be diagnosed.
“Yet they kind of know that they’ve got the disease. They hide the fact that they do have a diagnosis from their colleagues, from their friends, from their family. What are the disease is there that has such a stigma attached to it?”
Jonathan Clatworthy, 74, from Leeds, has taken part in the research. He was diagnosed with ME in 2002, but had spent the decade prior “looking for answers”.
“My health was at its worst then, and I still have to plan every day carefully,” he added.
“For men with ME, it can be very difficult to talk about our health and hard to face a disease with no treatment or cure, which is why we need to stand together now and join this study to help find the answers we are looking for.”
Sonya Chowdhury, chief executive of Action for ME, said DecodeME “urgently” needs more people with the condition to sign up, “particularly those who are men and from other ethnic backgrounds”.
She added: “The majority of people that we’ve had so far have been women. So while we are very keen for more women to join us, obviously we’re keen that those that are currently underrepresented to come forward.”
In August, researchers working on DecodeME revealed women have more symptoms and co-occurring conditions than men.
Using anonymous survey questionnaires from more than 17,000 people with the disease, they found two-thirds of women, and slightly more than half of men, reported at least one active co-occurring condition.
Similarly, 39.2% of women and 28.6% of men reported at least one inactive co-occurring condition.
Ms Chowdhury added: “We hope to better understand the biological root causes of ME – that’s a starting point and not an end point. But the more data we have about the genetics, the easier it’s going to be for drug companies to identify potential treatments.
“We suspect there may be drugs on the market currently that can be repurposed. And by having the genetic data, then we hope that that will give the information that’s been desperately missing thus far.”
Prof Ponting said DecodeME has already had a “fantastic response” from those impacted by the disease, but thousands more samples are still needed.
“With a the larger number of people comes the greater power of the study to find out what’s going on,” he said.
“We are told by participants how it is already transforming their lives that we’re working on their disease. They know that this may not help them, but it may yet help people in the future who have not yet got any symptoms.”