The DecodeME study has unveiled significant genetic differences in individuals diagnosed with ME/chronic fatigue syndrome (CFS) compared to those without the condition, marking a pivotal moment in understanding the genetic contributions to the disease's development.

Involving 15,579 DNA samples from a total of 27,000 participants, the study identified eight distinct regions of genetic code linked to immune and nervous system functions in people with ME/CFS.

Among the notable genes identified, RABGAP1L is highlighted as a probable contributor to ME/CFS risk, supporting the notion that initial mild infections can lead to symptom onset.

The research aims to pave the way for improved diagnostic tests and treatments, enhancing the recognition of ME/CFS as a legitimate medical condition.

Professor Chris Ponting from the University of Edinburgh highlighted the importance of these findings, noting they shed light on why infections can trigger ME/CFS and why pain is a prevalent symptom.

At least two of the identified genetic signals are associated with the body's response to infections, aligning with patient reports that their symptoms often began following an infectious illness.

The study's results are currently published as a preprint and have not yet undergone peer review, indicating that further validation is needed.

Historically, ME/CFS has been mischaracterized as a psychological disorder, but growing biological evidence is challenging this view.

Despite the significant findings, researchers caution that the genetic factors identified account for only a small portion of the risk for ME/CFS, underscoring the complexity of the disorder.

Future research will delve deeper into these genomic regions, with hopes of developing new diagnostic tools and targeted treatments, contingent on securing adequate funding.

Sonya Chowdhury, a co-investigator, described the findings as groundbreaking, suggesting they could significantly impact the understanding and treatment of ME/CFS, while also providing legitimacy to patients who have faced skepticism.

ME/CFS is estimated to affect around 67 million people globally, with approximately 404,000 cases in the UK, predominantly impacting women, although the genetic basis for this gender disparity remains unclear.