Birch, Camille L, Wilk, Brandon M, Gajapathy, Manavalan et al. · Journal of translational medicine · 2025 · DOI
Researchers studied the DNA of 31 people with ME/CFS from 25 families to find genetic causes of the illness. They found that about 39% of participants had gene mutations that could contribute to ME/CFS, and these mutations affected how bodies produce energy and handle stress. While the specific genes varied between patients, they all seemed to affect similar biological pathways, suggesting ME/CFS may be caused by different genetic problems that lead to the same symptoms.
This study provides evidence that at least some ME/CFS cases have identifiable genetic causes affecting energy metabolism and stress response, potentially opening doors to targeted treatments and biomarkers. By demonstrating convergence of diverse genetic variants onto shared biological pathways, it suggests that precision medicine approaches tailored to individual genetic profiles could improve diagnosis, trial design, and therapeutic development for this historically neglected condition.
This study does not establish that genetics causes all ME/CFS cases—only that genetic factors may contribute to a subset of patients. The findings are not yet validated in larger, more diverse populations, so the prevalence and relevance of identified variants remain uncertain. The study also cannot determine whether identified variants are sufficient to cause disease or require environmental triggers and other modifiers.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Birch, Camille L, Wilk, Brandon M, Gajapathy, Manavalan, Hutchins, Shaurita D, Kaur, Gurpreet, Brown, Donna M, et al. (2025). Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.. Journal of translational medicine. https://doi.org/10.1186/s12967-025-07586-w
BibTeX
@article{mecfsatlas-birch-2025-uncovering-genetic,
author = {Birch, Camille L and Wilk, Brandon M and Gajapathy, Manavalan and Hutchins, Shaurita D and Kaur, Gurpreet and Brown, Donna M and Mamidi, Tarun K K and Hodgin, Kathleen S and Turgut, Alp and Younger, Jarred W and Worthey, Elizabeth A},
title = {Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.},
journal = {Journal of translational medicine},
year = {2025},
doi = {10.1186/s12967-025-07586-w},
note = {PubMed: 41444612},
url = {https://www.mecfsatlas.com/evidence/birch-2025-uncovering-genetic},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/birch-2025-uncovering-genetic
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