| Title: | Genome-wide association study of Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME/CFS) |
| Lead Institution: | University of Edinburgh |
| Principal investigator: | Dr Veronique Vitart |
Application 76173
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About
ME/CFS is a chronic disease characterised by substantial reduction or impairment of activity levels associated with high levels of disability and poor quality of life. It affects an estimated 125,000 to 250,000 people in the UK, who often face stigma because of misconceptions. Despite its high cost to patients, the economy and the NHS, we know less about the causes of ME/CFS and how to treat it effectively than we do about many rarer and less disabling diseases. Our project seeks to reveal differences in a person's DNA (including their genes) that alter their risk of developing ME/CFS. These changes in risk are typically small and so to find them we need to study a large number - at least 20,000 - of people with ME/CFS. Our focus will be on DNA differences that add to a person's ME/CFS predisposition. We will use a genome-wide association study (GWAS) design because it has already helped uncover the biological roots of many other complex diseases. GWAS's major strength is that it is unbiased: its results are not affected by pre-existing biological assumptions or hypotheses. This means that it is ideal for discovering genetic causes of disease and new biology. Next, we will find out whether the genetics of ME/CFS overlaps with other diseases, and also predict genes, biological pathways and cell-types that are directly implicated in ME/CFS. We hope this work will ultimately lead to the development of diagnostic tests and targeted treatments. To meet our goals, we formed a Multidisciplinary Research Partnership linking researchers with people with ME/CFS and their carers. Our Patient and Public Involvement (PPI) team includes representatives from ten UK ME/CFS charities and Science for ME. The funded proposal was initiated, planned and written by everyone across this Partnership in accordance with the NIHR's National Standards for Public Involvement. Using orchestrated marketing and PR campaigns developed with PPI, we will build a research cohort of 20,000 people - each clinically diagnosed with ME/CFS and who meet established criteria. Within two weeks of our funding announcement, 17,660 individuals with a self-reported ME/CFS diagnosis signed up to support our project. A system will give researchers easy managed access to DNA data, questionnaire answers and other information on this large number of people, to allow them to design better and more effective experiments. The data will be appropriately anonymised and will be held and made available safely and securely.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15685 | Defining a High-Quality Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cohort in UK Biobank | Gemma L Samms (+1) | 2025 | NIHR Open Research |
| 16384 | Replicated blood-based biomarkers for myalgic encephalomyelitis not explicable by inactivity | Sjoerd Viktor Beentjes (+7) | 2025 | EMBO Molecular Medicine |
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