We are excited to share a new paper from the lab and collaborators examining myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) using an individualized, n-of-1 genomic and transcriptomic framework. The study was led by Camille Birch, PhD, Brandon Wilk, Manavalan Gajapathy, Shaurita D. Hutchins, Gurpreet Kaur, Donna M. Brown, Tarun Mamidi, PhD, MS, Kathleen S. Hodgin, Alp Turgut, Jarred Younger, PhD, and Elizabeth A. Worthey.
ME/CFS is a disabling and heterogeneous condition with no validated biomarkers and limited therapeutic options. Clinical variability and unclear pathophysiology have constrained progress in diagnosis and treatment. In this work, we tested whether integrating individual-level genomic and transcriptomic data with deep, participant-informed phenotyping could uncover molecular signatures unique to each patient.
Our findings support the idea that a subset of ME/CFS cases may represent distinct molecular disorders that converge on shared physiological pathways. Importantly, the study suggests that simply increasing cohort size may not be sufficient to resolve causation in a disease defined by rarity, heterogeneity, and molecular complexity. Instead, progress will likely require experimental designs that prioritize individual-level molecular data, rare and common variant effects, and environmental modifiers.
This work motivates a precision medicine framework for ME/CFS that can enable biologically informed stratification, improved trial design, biomarker discovery, and targeted interventions.
We are actively seeking collaborators to extend this approach to much larger and more diverse cohorts. If you or your organization is interested in partnering on future studies, we would welcome the opportunity to connect.
Read the paper at https://link.springer.com/article/10.1186/s12967-025-07586-w.
