New study reveals first genetic links in ME and chronic fatigue syndrome

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For the first time in more than 30 years, replicable genetic findings have been reported in the study into myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS).

UK-based PrecisionLife today (September 14) unveiled the results offering new approaches for better diagnosis and treatments of patients.

The data has also been submitted for peer reviewed publication and is available on the pre-publication site medRxiv.

Combinational analytics thanks to PrecisionLife platform

The use of a new hypothesis-free combinatorial analytics approach using the PrecisionLife platform enabled the study to identify 14 novel genetic associations with ME/CFS from the UK Biobank cohort.

Specifically, the combinatorial analysis revealed 199 SNPs, mapping to these 14 genes, which were significantly associated with 91% of the cases in the ME/CFS population.

Many of these genes are involved in highly plausible cellular mechanisms associated with ME/CFS disease including vulnerabilities to stress and infection, mitochondrial dysfunction, sleep disturbance and autoimmune development.

The study also identified similarities with genes that PrecisionLife has found to be associated with multiple sclerosis (MS) and long COVID.

Chronic disease

ME/CFS is a debilitating chronic disease affecting around 17 million people worldwide, which presents with diverse symptoms including post-exertional malaise, chronic pain, and cognitive impairment.

There are currently no approved disease modifying therapies for ME/CFS, and patients are managed via prescription of drugs and other therapies for symptomatic relief, including pain relief, anti-depressants, and cognitive behavioural therapy.

Sonya Chowdhury, chief executive, Action for M.E., said: “For too long, people with ME/CFS have struggled to get their condition diagnosed, understood, and acknowledged.

“These are exciting findings from PrecisionLife that may be used to develop diagnostic biomarkers and discover novel drug targets and precision repositioning opportunities in the future. If successful, these could be used to create the first therapeutic options for this debilitating disease.”

Long-COVID

MS and ME/CFS patients share a number of similar symptoms and there is increasing evidence that many long-COVID patients also share similar symptoms. It is also believed that some patients may be developing ME/CFS symptoms as a direct result of having a COVID-19 infection.

Dr Steve Gardner, CEO, PrecisionLife, said: “These groundbreaking results provide new hope of developing effective precision medicines for people living with ME/CFS around the world. It is further validation for our unique approach to the analysis of complex disease biology.

“PrecisionLife now has this unprecedented level of insight across over 40 diseases that we have so far studied, which creates wonderful opportunities for us and our partners to bring novel solutions for patients with unmet medical needs.”

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