Research looks into new approach to understand and detect endometriosis using menstrual blood

Scientists have developed a powerful new approach to detecting endometriosis – already attracting attention from leading pharmaceutical players – which is set to transform how the disease is researched, diagnosed and treated.

Endometriosis is a condition where tissue similar to the uterine lining grows in other parts of the body. It affects approximately one in 10 women and causes pain, fatigue and infertility, yet diagnosis takes an average seven to 10 years.

In a world-first clinical study, published in Nature Communications Medicine in May, scientists led by endogene.bio tested a pioneering diagnostic process which involves directly isolating menstrual blood-derived stem cells (MenSCs) from menstrual blood samples for analysis, rather than analyzing cultured cells.

Scientists believe MenSCs are the cells that drive lesion formation in endometriosis. Culturing the cells (i.e. removing them from a patient and growing them in a lab) 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.

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% 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 categorize 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 seven to 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 center in endometriosis care and research. It was led by endogene.bio: a Paris-based French and Spanish precision medicine organization 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, gynecology, immunology and computational biology, many of whom also suffer from endometriosis.

Dr. María Teresa Pérez Zaballos, co-founder and CEO at endogene.bio, comments: “Our world-first approach to endometriosis research and diagnosis is truly game-changing for women’s health. 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.”

Dr Francisco Carmona, 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 – comments: “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 personalized care pathways, transforming the lived experience of patients with endometriosis and how we approach their care.” 
 
Dr Alicia Martin, Head of Gynecology at CHUIMI Las Palmas, whose Obstetrics and Gynecology service was recognized as the best in Spain in the Hospitales TOP 20 awards for two consecutive years, and co-author of the study, comments “The results of this study bring us closer to achieving precision diagnosis in endometriosis. We are increasingly nearer to providing individualized solutions for women affected by this condition. This research supports the development of a personalized, non-invasive diagnostic approach based on the unique biomolecular characteristics of each patient”.

Source: endogene.bio

Image: Canva

Staff Writer