Oxford Nanopore, Action for ME, and University of Edinburgh launch groundbreaking study into the genetics of ME

A groundbreaking study will analyse the entire genetic code of up to 17,000 people with Myalgic Encephalomyelitis (ME) in a bid to uncover the genetic causes of the illness.

SequenceME will bring together experts from Oxford Nanopore Technologies, Action for ME, and the University of Edinburgh, to uncover the root causes of ME and to determine whether ME is one illness, or an umbrella condition encapsulating multiple diseases, such as long Covid and other chronic conditions.

Despite affecting over 24 million people globally, ME, also known as “Chronic Fatigue Syndrome” (CFS), currently remains a medical enigma, with no explanation of its cause and no approved treatments.

The research team will use advanced whole genome sequencing technology to look at every location in the 3 billion letter genome, enabling the identification of rare genetic variants – small changes to DNA sequence – and structural variations.

This detailed picture will allow researchers to search for the biological causes of ME with unprecedented precision, laying the foundations for breakthroughs in diagnosis and treatment.

The insights from SequenceME could therefore mark a turning point not only for ME but also for conditions like long Covid and other post-viral syndromes. By advancing understanding of this complex and debilitating illness, the study has the potential to deliver profound health, social, and economic benefits, from reducing the strain on healthcare systems to empowering patients with personalised treatments and plans.

The project builds on the DecodeME study, the world’s largest genetic study of ME led by the University of Edinburgh and Action for ME, which investigated whether common genetic variants were more likely to appear in those with ME than those without the condition.

Over 17,000 participants who donated saliva samples to DecodeME have consented to further analysis through the new study.

Subject to funding, SequenceME has the potential to become the largest global single-disease ‘long read’ genetics study, which gives richer, clearer data, as well as the first in ME to use Oxford Nanopore’s new generation of nanopore-based technology.

The collaboration is supported by Edinburgh Innovations, the University of Edinburgh’s commercialisation service.

Dr Gordon Sanghera, CEO of Oxford Nanopore Technologies, said: "DecodeME created the world’s largest ME/CFS study, and we are proud to take the next step with SequenceME. Using Oxford Nanopore’s any-length read sequencing technology, this project will uncover genetic insights that could transform patient care and open the door to personalised medicine for those living with ME.”

SequenceME will prioritise the voices of those most affected. Sonya Chowdhury, CEO of Action for ME, explained: "This collaboration will place people with lived experience of ME at its heart. The study will focus in its initial phase on severe and very severe cases of ME, ensuring that the people who live with its most devastating impacts are central to advancing understanding and driving meaningful change."

SequenceME presents a unique opportunity for strategic investment in chronic disease research, and the study’s potential to improve outcomes for individuals cannot be understated. This quarter, the study partners concluded a successful pilot phase by completing any-length sequencing of ten individual samples from the DecodeME library, demonstrating the high accuracy and scalability of the study method. The next phase, involving sequencing of 10,000 participants, requires £6 million in funding.

Professor Chris Ponting, DecodeME’s lead investigator at the University of Edinburgh, has urged stakeholders to seize this opportunity saying: "The SequenceME study represents a unique opportunity to build on DecodeME’s foundation and use world-class technology to address one of the most challenging medical puzzles of our time."

With its ambitious goals and commitment to putting patients at the centre, SequenceME represents a crucial and much needed step forward in understanding and addressing ME.