Scientists develop breakthrough approach to detecting endometriosis in menstrual blood

Scientists have developed a powerful new approach to detecting endometriosis which could transform how the disease is researched, diagnosed and treated.

In a world-first clinical study, scientists tested a pioneering diagnostic process which involves directly isolating menstrual blood-derived stem cells (MenSCs) from menstrual blood samples for analysis, rather than analysing cultured cells.

Scientists believe MenSCs are the cells that drive lesion formation in endometriosis.

Culturing the cells alters their make-up; whereas freshly isolating the cells without culturing preserves their molecular integrity, enabling a deeper and more direct view into how endometriosis behaves than ever before.

Dr Francisco Carmona is former president of the International Society of Endometriosis and Uterine Disorders, head of the Endometriosis and Uterine Transplant Unit at Hospital Clínic Barcelona, and co-author of this study.

The researcher said: “This study marks a significant leap forward in our mission to understand the biology of endometriosis.

“It has far-reaching implications: the methods tested could power the development of non-invasive patient stratification and diagnosis, better treatments and personalised care pathways, transforming the lived experience of patients with endometriosis and how we approach their care.”

In this landmark study, scientists were the first to analyse freshly isolated MenSCs using a process called DNA methylation profiling, which is already widely used to diagnose cancer.

They achieved an accuracy rate of 81 per cent and were clearly able to distinguish participants with endometriosis from those without.

The approach means scientists can use readily available menstrual blood samples to accurately diagnose and categorise endometriosis: a significantly less invasive process for patients than the current diagnostic gold standard, which involves a surgical procedure called a laparoscopy.

It also enables scientists to uncover critical information about the disease that can’t currently be provided by diagnostic imaging or biopsies.

Scientists hope the new technology will enable clinicians to detect endometriosis far earlier and without surgical intervention, reducing endometriosis diagnosis times from an average 7-10 years to just a few weeks.

The team also hopes to lay the foundation for the development of targeted therapies to treat different types of endometriosis.

Their approach could enable clinicians to stratify patients based on how the disease is behaving, and give patients access to targeted treatments before the condition has advanced.

The study was carried out by researchers at Hospital Universitario Insular de Gran Canaria and Hospital Clínic Barcelona – a leading centre in endometriosis care and research.

It was led by endogene.bio: a Paris-based precision medicine organisation on a mission to turn cutting-edge science into clinical tools that can close the female health gap. The endogene.bio team comprises world-leading experts in epigenetics, gynaecology, immunology and computational biology, many of whom also suffer from endometriosis.

Dr María Teresa Pérez Zaballos, co-founder and CEO at endogene.bio, said: “We wanted to design something that we as patients, but also as researchers, wished had existed.

“By accessing the molecular signals in menstrual blood, we’re unlocking information about endometriosis activity that was previously only available through surgery.

“Our approach shows DNA methylation profiling is a reliable, non-invasive way to diagnose endometriosis.

“Our findings also support the use of menstrual blood as a stable diagnostic sample.

“Many members of our team are endometriosis patients themselves, myself included. Our firsthand understanding of the diagnostic delays, clinical blind spots, and emotional toll of endometriosis shapes every decision we make, from sample collection design to clinical priorities.

“This is a company built by scientists who understand the molecular complexity of the disease and by patients who know exactly where medicine has fallen short.”