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ME/CFS Science @mecfsscience.org · 18/05/2026

1) Independent researcher Paolo Maccalini published an impressive paper implicating synaptic function in specific brain regions in the pathology of ME/CFS. It’s based on three major genetic studies, including DecodeME. The most replicated signal was for glutamatergic synapses.

Screenshot of the paper: "Biological Insights from Genome-Wide Association Studies and Whole Genome Sequencing of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome"

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ME/CFS Science @mecfsscience.org · 18/05/2026

2) Paolo used the DNA results of more than 15.000 ME/CFS patients from DecodeME, but he managed to add genetic data on 3891 ME/CFS cases from the Million Veteran Program (MVP) using a meta-analysis.

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ME/CFS Science @mecfsscience.org · 18/05/2026

3) He wanted to add cases from other genetic databases as well, such as the UK Biobank or FinnGen, but that gave the issue that some of the controls overlapped. So for now, DecodeME + MVP was the best he could do, totalling around 19.000 patients.

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