Researchers at Cedars-Sinai Medical Center have created a unique and detailed molecular profile of endometriosis, recently published in Nature Genetics, to help improve therapeutic options for the millions of women suffering from the disease. Fonseca and colleagues collected more than 400,000 cells from the pelvic tissue of 21 women aged between 21 and 62, some of whom had endometriosis and others disease-free. Using single-cell genomic sequencing of these cells, the researchers created a cellular atlas of endometriosis that allowed them to identify key molecular differences between the major subtypes of endometriosis, including peritoneal disease and ovarian endometrioma. In particular, the map led the team to identify a genetic mutation linked to the lymphatic vessels surrounding endometriotic lesions. GlobalData believes the genetic map will enable researchers to gain a better understanding of the cellular signatures of endometriosis, which could open the door to new targets for treatment in the future.

Endometriosis is a disease characterised by endometrial-like tissue found outside the uterus, resulting in symptoms such as chronic pelvic pain, severe and frequent cramps during menstruation (dysmenorrhea), genital pain during sexual intercourse (dyspareunia), and, in severe cases, infertility. Despite its high prevalence and cost, endometriosis remains an understudied disease, which has greatly limited understanding of the disease and slowed much-needed innovation in treatment options. According to GlobalData’s recently published report, Endometriosis: Global Drug Forecast and Market Analysis, the majority of current medical therapies treat endometriosis by targeting the estrogen production pathways or by modulating the menstrual cycle. These modalities do not sufficiently address the underlying pathology of the disease, and consequently, women only experience relief while using the therapies and often experience recurrence upon treatment termination. Furthermore, the efficacy of these drugs often diminishes over time, such that many patients no longer have adequate pain relief and may experience considerable side effects, including menopausal-like symptoms and decreases in bone mineral density. As a result, compliance is affected, and surgical intervention is made, often repeatedly, throughout the reproductive years.

This leaves a gaping unmet need in the endometriosis field for effective therapies that target the underlying cause of the disease rather than the symptoms themselves. GlobalData believes the genetic map created by the team at Cedars-Sinai Medical Center will allow researchers across the globe to gain a better understanding of the cellular signatures involved in the genesis of this chronic and progressive disease and could push forward the investigation of novel treatment targets. It is hoped that the insights provided by the genetic map will lead to the development of more targeted treatment options for the millions of women suffering from the disease.