Researchers have come up with what appears to be a revolutionary breakthrough in the diagnosis of endometriosis. Behind the latest discovery is an international team of mainly female researchers working in Barcelona and Gran Canaria at an endometriosis centre actively researching the disease. The project is being led by a Paris-based precision medicine company, endogene.bio, backed by UK investors. The company aims to bring a breakthrough in women's health and move the field away from symptom-based medicine towards molecular diagnostics.
The research is led by Dr María Teresa Pérez Zaballos, co-founder and CEO of endogene.bio. She herself suffers from endometriosis and was diagnosed at the age of 27 after five years of going from doctor to doctor, undergoing various surgeries and ineffective treatments. It was this personal experience that led him to seek new, faster and gentler diagnostic solutions. Women's health, she says, is still too much based on describing symptoms rather than a molecular understanding of disease, and she wants to change that.
The research team includes Dr Francisco Carmona, who has been working for more than 30 years to improve care for women with endometriosis. He sees this study as a major leap forward in understanding the biology of the disease and, in the long term, could completely transform the system of diagnosis and treatment.
The team is working closely with two leading Spanish hospitals, Hospital Universitario Insular de Gran Canaria and Hospital Clínic Barcelona, where endometriosis research and treatment has long been a priority. These sites are internationally renowned centres for research into female reproductive diseases, providing an ideal setting for clinical trials.
Researchers are talking not only about a diagnostic breakthrough, but also a new way of looking at endometriosis: they believe that understanding endometriosis is key to developing personalised treatments. DNA methylation patterns not only show whether a person has endometriosis, but also how the disease behaves in the patient's body. This could be the first step towards targeted, individualised therapies rather than one-off treatments in the future.
For now, the research is only available in preprint form, which means that if all goes well, it is likely to be published in a scientific journal soon. In addition, two major clinical trials are already underway. If these are successful, the researchers believe that a rapid, non-invasive endometriosis test using menstrual blood could be available within three years. The aim is to ensure that women do not have to wait years for a diagnosis, do not undergo unnecessary surgery and get the right treatment in time.
The story of the research team is inspiring in itself: doctors, biologists and biotechnologists working together, with a multidisciplinary approach, women, with a spouse who is affected by the disease, working to understand a disease that has been under-researched for a long time, but affects many women. They see their work as a result, not only of a scientific breakthrough, but also of a social justice for women whose pain has been ignored for decades.
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