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Article

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.

Journal of translational medicine - 24 Dec 2025

Birch Camille L, Wilk Brandon M, Gajapathy Manavalan, Hutchins Shaurita D, Kaur Gurpreet, Brown Donna M, Mamidi Tarun K K, Hodgin Kathleen S, Turgut Alp, Younger Jarred W, Worthey Elizabeth A

Abstract excerpt

BACKGROUND: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling and heterogeneous disorder lacking validated biomarkers or targeted therapies. Clinical variability and elusive pathophysiology hinder progress toward effective diagnostics and treatment. Core symptoms include persistent fatigue, post-exertional malaise, unrefreshing sleep, cognitive dysfunction, and pain. We tested whether an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41444612
DOI: 10.1186/s12967-025-07586-w
PMCID: PMC12888368

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