Study reveals first genetic links in chronic fatigue syndrome, paving the way for new drugs
PrecisionLife – a company which generates insights into disease biology to create novel precision medicines for chronic diseases – has unveiled the results of a study that provides the first detailed genetic insights into the pathophysiological mechanisms underpinning myalgic encephalomyelitis (ME) or chronic fatigue syndrome (CFS).
It is the first time that replicable genetic findings have been reported in over 30 years of study into the disease, offering new approaches for better diagnosis and treatment of patients.
The results of the ME/CFS study are being presented today at the ME Genetics Research Summit organised by ME charity, Action for ME and the Medical Research Council’s (MRC) Human Genetics Unit at the University of Edinburgh.
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 that 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 data also identified similarities with genes that PrecisionLife has found to be associated with multiple sclerosis and long COVID.
Sonya Chowdhury, chief executive at Action for ME, explained: “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.”
Dr Steve Gardner, chief executive officer at PrecisionLife, concluded: “These ground-breaking 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,” he added.
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.
