“It reduces access to diagnosis by years to weeks.”

A team of scientists led by a biotechnology company Endogen BioThe company, based in Paris (France) and consisting of experts in epigenetics, gynecology, immunology and computational biology, has developed a pioneering new method for detecting the disease, which has already attracted the attention of the pharmaceutical industry and could change the way endometriosis is screened, diagnosed and treated. This can be determined through a simple sample of menstrual blood High degree of reliability Whether or not the patient suffers from the disease, which is chronic and very disabling in some cases.

New procedure It is not invasive He was able to reduce the “arduous” journey of these patients to diagnosis from years to just weeks, allowing them, in turn, to receive treatment sooner and avoid surgery, which is the last option for those affected and reserved for severe cases.

During the study in which the procedure was validated, conducted by researchers from Insular University Hospital in Gran Canaria And who Barcelona Hospital Clinicthe leading centers in endometriosis care and research, isolated scientists directly Menstrual blood stem cells (MenSC) – those that lead to the formation of the lesion in the lining of the uterus – from patient samples rather than analyzing cultured cells and analyzing their molecular changes.

“Culturing the cells (i.e. extracting them from the patient and growing them in the laboratory) changes their composition, while the new isolation of the cells without culture preserves their molecular integrity, allowing a deeper and more direct view than ever of the behavior of the endometrium,” he points out to the ABC. Maria Teresa PerezCo-Founder and Managing Director of Endogene Bio and Doctorate in Health Sciences from the University of Las Palmas de Gran Canaria

This is the first investigation in which uncultured male cells are analysed, through a process called profiling. DNA methylation — a protocol consisting of analyzing small chemical “tags” on top of genes that affect their activity — which has already had successful cases in cancer diagnosis. The methylation patterns identified during the study were not only predictive of endometriosis, but also revealed how the disease behaves in different patients.

Genes that “should have been active were turned off”

The research results validated this new procedure as a diagnostic tool through its investigation 81% accuracy rateThe ability to clearly distinguish between participants with endometriosis and those who did not suffer from it. “We saw that a series of genes that had to be active for the disease not to develop were turned off in some patients, which allowed us to identify women with the disease. “This method is powerful and descriptive, and allows scientists to reveal important information about the biology of the disease that cannot currently be provided by imaging techniques or biopsies,” says the co-founder of Endogene Bio.

“Our pioneering approach to endometriosis research and diagnosis means A new way of understanding And the study of women’s health. We wanted to design something that we wanted to exist in, as patients, but also as researchers. “By accessing the molecular signals of key cells in menstrual blood, we are revealing information about endometrial activity that previously could only be obtained through surgery.”

Diagnosing endometriosis is complex. It begins with a physical examination and consultation with the patient’s medical history. Imaging tests are also performed –Ultrasound and MRI– To determine the presence of the disease. However, the final diagnosis can only be confirmed by laparoscopy, a surgical procedure in which the tissue is examined directly and a biopsy can be taken for analysis. “Surgery comes years after the first symptoms appear, once the lesions become large enough to be visible and samples can be taken, and in all those years patients You are experiencing symptoms“In some cases it causes severe disability,” Perez says.

“stratification of patients”

The scientific team hopes that this new technology will allow doctors to detect endometriosis very early and without surgical intervention, reducing the diagnosis time by an average rate. From 7 to 10 yearsIt’s only a few weeks. Promoters of this pioneering method also hope that it will “lay the foundations for the development of specific therapies aimed at treating different types of endometriosis.” “It could allow doctors to stratify patients based on disease behavior and provide personalized treatment before it progresses.” Maria Teresa Perez.

“Many of our team members are endometriosis patients, including myself. Our first-hand knowledge of the diagnostic delays, clinical blind spots, and Emotional impact “Endometriosis impacts all the decisions we make, from sample collection design to clinical priorities,” says Endonege Bio co-founder.

Psychological effect

The doctor Francisco Carmonaformer president of the International Society for Endometriosis and Uterine Disorders (SEUD), senior consultant in the gynecology service at the Hospital Clinic of Barcelona and co-author of this study, stresses in statements to this medium the importance of this progress. “The new method allows us to make a diagnosis within weeks, whereas it currently takes on average about eight and a half years. In all this time of delay in diagnosis, the woman suffers physically, and this suffering also takes a toll Psychological effect“Carmona says.

“A woman undergoes an average of three specialist doctors before she discovers that she has the disease, and delays in diagnosis also have an economic impact. “There are studies that indicate that affected women lose eight hours of work, between those who do not go to work and those who go and do not work as a result of the disease,” says the gynecologist. Remember that at this time there are two ways to deal with the disease: drug therapy, mainly hormonal, and surgery, intended for More serious cases The disease greatly affects other organs. In the clinic, about 30% of cases end up in the operating room, the gynecologist says. Among them is that Esther Moyaa 42-year-old woman from Murcia, who, after four years of traveling between consultations and several hospitalizations due to serious bowel problems, underwent surgery by Dr. Carmona in Barcelona.

“I spent several years going from one consultation to another without knowing what I had. On the ultrasound they discovered a nodule in my intestine. I was hospitalized several times for partial intestinal obstruction and I always felt distressed when I thought my intestines were closing up. Years of suffering passed until I reached the diagnosis, and when they gave me the disease had progressed and they had to operate on me and remove a piece of the intestine, the uterus and my fallopian tubes,” says Moya, who confirms that the surgery closed the doors permanently for him. Be a mother for the second time (He has a 10-year-old son.) “I had not yet thought about having a second child, but the illness and surgery took that possibility away,” Moya says.

The infected person celebrates the arrival of this new method that “allows us to stay one step ahead of the disease.” “With this new system Torture is avoided Years without a diagnosis and with pain and strict diets I had to follow because I thought I had a digestive problem. “You also suffer on a psychological level and that is something that is avoided.”

Carmona emphasizes how “important” this new diagnostic method is for patients. “Now we can only treat the symptoms, not the causes, and surgery is the last option. Detecting the disease early and obtaining clues about its molecular behavior are important to improve the prognosis of these patients. The ideal would be not only to diagnose the disease but also, based on markers and genetics, to predict its progression and be able to move towards targeted therapies.” Francisco Carmonto.

The specialist also stresses the need to improve pathology training by providing a Endometriosis topic Or create directly SubspecialtyD within gynecology about “benign pathology”.

In one The second stageAfter the study ends, the researchers will “validate the approach” using a larger group of patients. “With more data, molecular signals found in menstrual blood could help identify patterns of disease, allowing this Classification of patients For clinical trials, guiding the development of new treatments and supporting more personalized approaches to disease management,” Endogene Bio points out.