Myalgic encephalomyelitis (ME/CFS), also known as chronic fatigue syndrome, is a complex condition characterized by post-exertional fatigue and a range of neuroimmune symptoms. It is one of several debilitating conditions that fall under the diagnostic umbrella of post-acute infection syndrome (PAIS) due to its association with an incomplete recovery from viral disease. ME/CFS often presents with complexity and varying severity in the clinic. This means that it can be particularly difficult to diagnose, with approaches relying heavily on observational study and patient symptom self-reporting. While the diagnosis of ME/CFS is becoming easier as clinical awareness increases, challenges still remain due to the lack of a definitive and quantitative in vitro test.12
A major new study (DecodeME) led by the University of Edinburgh has revealed exciting new insights into the immunological components of ME/CFS with potential implications for future diagnostic development. The research, which supports the role of neuroimmune dysfunction in ME/CFS, reveals an association between key immune response and nervous system function genes and clinically validated ME/CFS presentations. The study, which analyzed the DNA of more than 15,500 people, identified eight specific genetic signals linked to the condition. Notably, several of these genetic variants were directly related to immune response and nervous system function, supporting long-standing clinical observations and patient-reported symptoms.
Two of the discovered genetic variants were specifically tied to infection response mechanisms, further supporting the role of viral infection in ME/CFS pathogenesis.
While ME/CFS symptoms are varied, many experts believe that the key to a prospective in vitro diagnostic test could lie within patients’ blood.3 Immune cells – also known as T cells – reside within patients’ blood plasma and often show hallmark signs of dysfunction in cases of chronic fatigue. These dysfunctional changes, while yet to be fully elucidated, could be reflective of the genetic findings reported by DecodeME. Hence, the latest research further supports the potential for blood-based ME/CFS diagnostic testing and highlights the prospective role for T cell analysis in disease stratification and research.
The DecodeME study findings reinforce what many patients and clinicians have observed for years: unresolved infection can be a trigger for developing ME/CFS. Our ViraxImmune™ platform, which is currently being developed, is designed to explore these same questions from a different angle. We investigate the dysfunctions of the immune system, and specifically T cell response, which is critical in fighting off infections and managing chronic conditions. The DecodeME study’s results highlight the role of the immune system genes ,providing strong external validation for our in-development assay for the clinical diagnosis of PAIS. This assay could offer doctors and their patients unprecedented insights into adaptive immune dysfunction status, known to be associated with ME/CFS. By developing tools that help clinicians understand and manage post-viral immune dysfunction, we aim to provide better diagnostics and personalized treatment strategies.
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