What Was the Breakthrough?

Our research team studied epigenetic patterns—chemical modifications that regulate gene activity—in a rare type of uterine stem cell that is naturally shed in menstrual blood. These cells, known as MenSCs, are thought to play a role in the development of endometriosis but have not been used before for diagnostic purposes. By analyzing their DNA methylation profiles across the whole genome, our researchers identified a distinct molecular signature that could differentiate between individuals with and without endometriosis.

This approach applies cutting-edge technologies already used in cancer research, where DNA methylation profiling has become one of the most promising tools for early detection and patient stratification, and brings them into the historically neglected field of women’s health.

This is one of the first studies to focus on a disease-relevant cell type, using a non-invasive sample, to uncover potential molecular clues linked to endometriosis diagnosis.

Why Epigenetics?

Epigenetics refers to chemical marks on our DNA that affect how genes are turned on or off—without changing the DNA sequence itself. These marks are shaped by health, environment, hormones, and disease, and can offer valuable clues about what’s happening in the body over time.

Methylation profiling, the specific epigenetic technique used in this study, is gaining traction in oncology as a sensitive and stable way to detect disease. However, in gynaecology, it remains underused—partly because menstrual cycle fluctuations make interpretation difficult.

Our study addresses that gap by using menstrual blood, which allows samples to be collected at a consistent point in the cycle—helping isolate disease signals more clearly and reliably. Instead of relying on symptoms alone, this method reads a stable molecular signature, offering a more objective view of the biological changes associated with endometriosis.

What Did the Study Find?

Researchers found a distinct epigenetic signature in the uterine stem cells of individuals with endometriosis. The changes affected genes involved in tissue remodeling, stem cell activity, cell adhesion, and inflammation—all core features of endometriotic lesion development.

A machine learning model trained on this data achieved 81% accuracy, with 83% specificity and 79% sensitivity with methylation alone, without needing to look at any other clinical variables.

These results show that menstrual blood can reveal stable molecular signals linked to the disease, potentially opening the door to new diagnostic and biological insights.

Why Is This Different?

Most past studies on endometriosis biomarkers have used bulk tissue from the uterus or blood, which contain many cell types and often blur disease signals. This study focused on a specific, disease-relevant cell type: uterine stem cells naturally found in menstrual blood.

Importantly, our researchers worked with fresh, non-cultured cells and applied whole-genome methylation profiling, offering an unbiased, high-resolution view of the epigenetic landscape.

By targeting the right cell type at the right time, this approach improves the chances of identifying reliable biomarkers, and does so using a sample that’s easy to collect at home.

With Deep Gratitude

We are deeply grateful to the patients who generously participated in this study, their time and trust made this research possible.

We also thank ADAEC (Asociación de Afectadas de Endometriosis de España) for their vital role in:

- Sharing the study within the community

- Helping us design the menstrual blood collection kits and patient experience through patient-centered workshops.

What’s Next?

This research opens the door to new possibilities. The team is now exploring how these molecular patterns could help stratify patients into biologically distinct subtypes and potentially predict response to different treatments, a first step toward more personalized care.

Understanding the underlying biology of endometriosis could help move beyond one-size-fits-all approaches, toward care that’s more targeted and effective.

Learn More About It:

At endogene.bio we are actively pursuing co-development opportunities for our technology applied to endometriosis and other gynaecological conditions, so if you would like to know more, please reach out via our form (https://www.endogene.bio/en/contact) or at info@endogene.bio.

Review our clinical study : https://www.biorxiv.org/content/10.1101/2025.07.25.666720v1

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