MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Hunt begins for genes to unlock mystery of ME

A quest to find the genetic signal to one of the world’s most puzzling medical conditions is being led by Edinburgh researchers: September 2022

Scientists in the Lab

People diagnosed with myalgic encephalomyelitis (ME) are being invited to take part in the world’s largest genetic study of the disease.

The DecodeME study will seek to reveal the tiny differences in a person’s DNA that can increase their risk of developing ME – also known as chronic fatigue syndrome (CFS).

Experts will study 25,000 individual DNA samples in a bid to understand the underlying mechanisms of the disease and assist in the search for effective treatments.

DecodeME will analyse DNA in the saliva of 20,000 donated samples from people with ME, to explore whether the disease is partly genetic and if so, research its cause.

The study also includes a ‘post-Covid’ arm, analysing the DNA of a further 5,000 people who have been diagnosed with ME/CFS after Covid-19 infection.

Genetic factors

It is hoped the DecodeME project will reveal genetic factors that are shared between – or else distinguish – individuals who were clinically diagnosed with ME/CFS either pre-Covid or post-Covid. 

The study will include information gathered from an anonymous survey questionnaire for participants. Evidence from this will provide insight into the experience of people with ME/CFS and an understanding of what it is like to live with this complex condition. 

Individuals with ME/CFS aged 16 and over and based in the UK are invited to take part from home by signing up on the DecodeME website:

Participants who meet the study’s criteria will be mailed a collection kit and asked to send back a saliva sample to be compared to the DNA of individuals in the control group.

ME/CFS has been estimated to affect more than one quarter of a million people in the UK, of all ages and from all social and economic backgrounds.

Its key feature is a dramatic worsening of symptoms, often delayed, following minor effort. Symptoms include pain, brain fog and extreme exhaustion that does not improve with rest. Causes are unknown and there is currently no diagnostic test or effective treatments.

Study partners

The study involves the University of Edinburgh, the charity Action for ME, the Forward ME alliance of UK charities and people who have experienced the condition. The study is funded by the Medical Research Council and the National Institute for Health Research.

A team from the MRC Human Genetics Unit at the University of Edinburgh will lead on scientific analysis of the study.

Leading the team will be Professor Chris Ponting, who was notably involved in the Human Genome Project – an international research effort to map the DNA sequence of an entire human genome.

Professor Ponting said: “The data generated through these questionnaires and genetic analyses will be invaluable in understanding ME/CFS.

“Genome-wide association studies, like the DecodeME study, have already proved successful in helping to uncover the biological roots of many other complex diseases including type 2 diabetes and Alzheimer’s disease.

“This is the first sizable DNA study of ME/CFS, and any differences we find compared to control samples will serve as important biological clues. Specifically, we believe the results should help identify genes, biological molecules and types of cells that may play a part in causing ME/CFS.”

Sonya Chowdhury, Chief Executive of Action for ME and Chair of the Management Group of the study, adds: “People with lived experience of ME/CFS are at the very heart of the DecodeME project and our Patient and Participant Involvement (PPI) group has worked closely with researchers on all aspects of the study.

“Their profound involvement has been so transformational that we firmly believe it sets a new standard for health research in this country.”