Feinstein researchers develop non-invasive endometriosis diagnosis

Endometriosis, 3D illustration
Computer illustration showing the female reproductive system, including the bladder, uterus, and ovaries. The lining of the uterus (endometrium) extends outside the uterus into the fallopian tubes, ovaries, and abdominal cavity, in a disease called endometriosis. It causes severe pain in the pelvic area. [TUMEGGY/SCIENCE PHOTO LIBRARY/Getty Images]

Researchers at Feinstein Institutes published research results yesterday in Medicine BMC, demonstrating the ability to diagnose endometriosis from the molecular and genetic makeup of menstrual fluid (ME) endometrial tissue. The findings offer the potential for a non-invasive diagnosis of this common debilitating condition that affects as many as one in ten women as possible and can take up to 10 years for a correct diagnosis using current technologies. Research into the genetic and cellular makeup of ME for diagnosing endometriosis has continued over the past seven years at Feinstein.

Endometriosis occurs when uterine-like tissue grows outside the uterus and forms lesions. The condition leads to chronic fatigue, often debilitating pain, infertility, and other complications. The only diagnostic method available today is invasive laparoscopic surgery. Because non-invasive diagnostic tools are not available, it can take seven to ten years to diagnose endometriosis.

The research, led by Peter Gregersen, MD, and Christine Metz, PhD, staff member single-celled RNA sequencing (scRNA-Seq) to compare endometrial tissue in ME freshly collected from 33 study participants consisting of healthy controls and those already diagnosed with endometriosis.

Metz, MD, professor in the Institute for Molecular Medicine at the Feinstein Institutes and co-director of Research OutSmarts Endometriosis (ROSE) Study. “This new paper describes the potential of a new screening tool to identify endometriosis early and enable patients to get the help they need.”

As the team looked to develop definitive biomarkers that would represent the hallmarks of the condition, they discovered a unique subset of uterine natural killer (uNK) cell proliferation in ME tissues from a healthy control group that was virtually absent from endometriotic cases, along with a surprising group . Reduction of total uNK cells in the ME of samples of study participants with endometriosis.

The investigators note that this signature, when combined with the clinical symptoms present in women, has the potential to screen or diagnose adolescents and women with this condition.

“The ROSE study research helps us understand the molecular and genetic makeup of endometrial tissue in the Middle East from women with endometriosis,” said Gregersen, professor in the Institute of Molecular Medicine at the Feinstein Institutes and co-director of ROSE. “More than 2,000 women have participated in the ROSE study so far and we are grateful to them for helping us produce knowledge that will improve patients’ lives.”

The team continues to build on this work and has begun a clinical trial to validate their findings. In the trial, researchers will compare MEs from asymptomatic women who have not yet been diagnosed but will undergo necessary surgery as part of their standard care to determine if they have the condition. Studies are also underway to investigate ME in symptomatic and asymptomatic adolescent girls for predicting endometriosis at ages and early stages.

“While endometriosis is a common condition, there is still a lack of diagnosis and appropriate early intervention,” said Kevin J. Tracy, MD and CEO of the Feinstein Institutes. “These important findings from Dr. Gregersen and Metz promise to change our understanding of this disease and focus on improving the diagnosis and care they need.”

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