Medical research is entering an exciting period, with new and creative ways to detect disease. One recent study gained attention for using advanced three-dimensional genomic profiling to investigate ME/CFS.
The study focuses on epigenetics, which examines how gene activity changes in response to infections or stress. This is especially relevant for post-infectious illnesses like ME/CFS. Previous epigenetic studies in ME/CFS have been disappointing, but this research took a different approach.
Rather than measuring gene activity directly, the researchers looked at how chromosomes fold inside cells. When the body encounters stress or infection, chromosomes can form structures called loops, which bring distant genes together so they can interact. These loops usually support immune defence, but abnormal looping can drive ongoing inflammation.
Using specialised technology, Oxford Biodynamics compared chromosome loops in housebound ME/CFS patients and healthy controls. The results were striking: the test identified ME/CFS correctly in 96% of cases, using about 200 genetic markers. Analysis highlighted three immune-related pathways involved in ME/CFS: IL-2 signalling, innate immune activation, and the JAK-STAT pathway.
These findings are promising because drugs already exist that target these immune pathways. Some are currently being tested in ME/CFS, while others are widely used in diseases such as multiple sclerosis and rheumatoid arthritis. This raises hope that effective treatments could be repurposed.
However, the study has limitations. It involved a small group, focused only on severely affected patients, and relied on complex technology that may be difficult to reproduce. Larger studies are needed to confirm the results.
Reference
Hunter, E., Alshaker, H., Bundock, O., Weston, C., Bautista, S., Gebregzabhar, A., Virdi, A., Croxford, J., Dring, A., Powell, R., Vugrinec, D., Kingdon, C., Wilson, C., Dowrick, S., Green, J., Akoulitchev, A., & Pchejetski, D. (2025). Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch® 3-dimensional genomic regulatory immunogenetic profiling. Journal of translational medicine, 23(1), 1048. https://doi.org/10.1186/s12967-025-07203-w