Internet Explorer is no longer supported by Microsoft. To browse the NIHR site please use a modern, secure browser like Google Chrome, Mozilla Firefox, or Microsoft Edge.

Largest genetic study into myalgic encephalomyelitis is launched

Published: 23 June 2020

A new study has been funded to analyse samples from 20,000 people with myalgic encephalomyelitis (ME) to search for genetic differences that may indicate underlying causes or increase the risk of developing the condition.

The study, jointly funded by the NIHR and the Medical Research Council with £3.2m (£1.4m NIHR, 1.8m MRC), hopes to aid development of diagnostic tests and targeted treatments.

ME, also diagnosed as chronic fatigue syndrome (CFS), affects an estimated 250,000 people in the UK. People with ME experience debilitating symptoms associated with post-exertional malaise, the body and brain’s inability to recover after expending even small amounts of energy. 

Despite its high cost to patients, the economy, the NHS and society, very little is known about the causes of ME/CFS, or] how to treat it effectively. Previous research has shown that a greater risk of ME/CFS may, in part, be inherited. The study has been developed through a partnership between scientists and people with ME/CFS.

People with ME/CFS across the UK will be asked to volunteer to take part in the study, known as ‘DecodeME’. They can volunteer from home, confirming they meet the selection criteria via a patient questionnaire already being used by the CureME Biobank. Participants will be mailed a collection kit and asked to send back a saliva or “spit-and-post” sample. These will be compared with samples from healthy controls. The aim is to collect 20,000 samples.

In taking this many samples, the partnership will undertake the world’s largest genome-wide association study (GWAS) of ME/CFS. Studies using the GWAS method have already helped to uncover the biological roots of many other complex diseases, including the identity of genes involved in Type II Diabetes, and the microglia (immune cells of the brain) that play a key role in Alzheimer’s Disease.

Professor Chris Ponting, from the MRC Human Genetics Unit at the University of Edinburgh, who is leading the study, says: “Our focus will be on DNA differences that increase a person’s risk of becoming ill with ME/CFS. We chose to study DNA because significant differences between people with, and without, ME/CFS must reflect a biological cause of the illness. It is our hope that this study, the world’s largest genetic analysis so far, will transform ME/CFS research by injecting much-needed robust evidence into the field.”

Andy Devereux-Cooke, one of the patients leading the study, says: “As someone living with ME/CFS, I'm well aware that the patient community has waited a long time for a study such as this one that has such a strong, genuine element of patient involvement. All of us involved with this research project hope that it can start to address the totally unwarranted stigma and lack of understanding that so many patients with ME/CFS face on a daily basis."
Dr Luis Nacul, who co-leads of the study and runs the [HJ-U6] CureME Biobank, from the London School of Hygiene and Tropical Medicine, says: “Unlocking the genetic susceptibility to ME/CFS is a key part of understanding what causes ME/CFS and the disease mechanisms involved. This, in conjunction with other biomedical research into ME/CFS, should finally pave the way to better diagnosis and the development of specific treatments for this debilitating disease.”

Sonya Chowdhury, Chief Executive, Action for M.E., and Chair of the study management group, said: “Simply put, we cannot do this without the determination and support of people with ME/CFS. Recruiting the 20,000 people we need is challenging – but absolutely achievable, by working in partnership with the CureME Biobank, charities, patient advocates, local support groups and others. People with ME/CFS can register their interest right now on the ME/CFS Biomedical Partnership website .”

Dr Louise Wood, joint head of the NIHR, said: “I am pleased to see the research teams in Edinburgh and the London School of Tropical Medicine, and patient groups, come together to take forward this important project which seeks to shine a light on the causes of ME/CFS for the benefit of people living with this debilitating condition. Patient involvement - one of NIHR's key values – has been embedded throughout, bringing huge relevance and value to the project."

Professor Fiona Watt, Executive Chair of the Medical Research Council, which is helping to fund the project, said: “This project is very significant in its scale and ambitions. It is one of the biggest studies into potential genetic connections to ME/CFS and I would like to congratulate Prof Chris Ponting and his colleagues on this award. It signals the shared commitment of funders, researchers and patients to work together to gain new insights into ME/CFS.”

‘DecodeME’ is being led by the ME/CFS Biomedical Partnership, with researchers from the MRC Human Genetics Unit at the University of Edinburgh and the London School of Hygiene and Tropical Medicine. This collaboration of researchers, people with ME/CFS, carers and advocates has grown out of the UK CFS/ME Research Collaborative (CMRC), established in 2013 by Prof Stephen Holgate, MRC Clinical Professor of Immunopharmacology at the University of Southampton.

The study is scheduled to begin in September, with recruitment of participants from March 2021. Anyone with ME/CFS aged 16 years or over who wants to take part in the DecodeME study can register their interest now.

Latest news