The Missing Link: Why Genetic and Epigenetic Research Must Be Central to ME/CFS Understanding

By SWA

When I first became aware of ME/CFS in 1996, it was a pivotal moment in my decades-long search for answers. The persistent weakness I had experienced since early childhood finally had a possible name, and my investigation into the root causes took on renewed urgency.

In 2000, after receiving my first comprehensive DNA analysis, I discovered several significant methylation irregularities. These findings suggested a genetic and epigenetic basis for many of my symptoms—yet this perspective was largely ignored by the medical professionals I approached. In fact, nearly 95% of them dismissed any connection between gene methylation and common biological triggers such as inflammation, sepsis, medications, or infections of viral, bacterial, or fungal origin.

This widespread rejection was deeply disheartening—not only for me, but for countless other patients facing similar struggles. Many were left unsupported, misdiagnosed, or even stigmatized. Standard treatment approaches often included exercise programs, antibiotics, or antiviral prescriptions, administered without a clear understanding of the underlying pathology or any consideration for potential side effects or adverse interactions related to genetic vulnerabilities. While often well-intentioned, these interventions frequently did more harm than good.

Over the years, patients have tried a wide range of supplements and treatment protocols—often at great personal expense and without the support of validating lab results to confirm deficiencies or overloads. They hoped for relief, but too often, these efforts failed—not because they weren’t trying hard enough, but because the science had not yet caught up with the true complexity of these conditions.

That’s why the work of Oxford BioDynamics was such a turning point. Their research provided concrete evidence linking genetic variations to multiple nutrient deficiencies and chronic illnesses, lending long-overdue credibility to what many patients had been experiencing for years. For the first time, the scientific community was beginning to validate what we already knew: that these conditions are not just “in our heads,” and they are not caused by a single virus, stress event, or lifestyle factor.

In 2021, I approached several ME/CFS organizations, urging them to broaden their focus beyond Epstein-Barr Virus (EBV) as the dominant theory. I suggested investing in genetic and epigenetic research—specifically into the role of gene methylation and immune signaling pathways. The responses I received were generally polite, but non-committal: “We’ll look into it.” Today, I believe that answer is no longer sufficient. The evidence is here. It’s time to act.

We now understand that there is no single cure for ME/CFS or other related, complex chronic illnesses. That’s because there is no single cause. Preliminary research increasingly points toward a web (Fig. 3) of interconnected genetic factors, immune system dysregulation, and disrupted gene expression. Personalized treatments—tailored to an individual’s genetic profile—may be the only way forward. But those treatments must be informed by robust, focused research.

If I could be granted one wish, it would be for the Max Delbrück Center in Berlin—an institution I deeply trust—to launch targeted research into epigenetic demethylation, beginning with its application to immunodeficiency. I believe this approach has the potential to uncover new therapeutic strategies not only for ME/CFS, but for a wide range of autoimmune and neuroimmune disorders.

Our lived experiences as patients matter. Our voices must help shape the direction of scientific inquiry. With ongoing advocacy, collaboration, and a shift toward truly personalized medicine, we can move from being dismissed to being heard—and from being treated as burdens to being seen as key contributors to the future of medical understanding.

Kudos to Oxford BioDynamics for restoring my faith in science. Their work is a vital step forward, though much remains to be explored.

It’s time to expand the lens. It’s time to fund the research that reflects the real complexity of these conditions. And most importantly—it’s time to listen to patients.

Reference:

Development and validation of blood-based diagnostic biomarkers for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) using EpiSwitch® 3-dimensional genomic regulatory immuno-genetic profiling”
https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-025-07203-w

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742

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