Researchers at The Jackson Laboratory recently completed a study that generated data on more than 122,000 cells across 14 individuals as part of their efforts to better understand endometriosis, the disease that impacts 1 in 10 women.
The study is an important step toward earlier diagnosis and better treatments for patients suffering from pain and, in some cases, infertility.
The study, the findings of which were recently published in Nature Cell Biology, helped researchers achieve a deeper understanding of the basics of the disease at a single cell level, according to Elise Courtois, Ph.D., the associate director of the Single Cell Biology group at JAX.
The tissue that lines the uterus, endometrium, sheds during menstruation. Endometriosis occurs when endometrium-like tissues grow outside the uterus.
Courtois also worked with Dr. Danielle Luciano, associate professor of Obstetrics & Gynecology at the UConn School of Medicine, on the study as well as Yuliana Tan, first author, molecular biologist and Predoctoral Associate at JAX – and Single Cell Biology director Paul Robson.
The study looked at women who are in stage 3 or 4 of endometriosis – the more serious stages of the disease – and have received treatment via hormone therapy. All the women had surgery to remove lesions that had formed due to endometriosis.
Through the study, the research team came up with a comprehensive cell atlas of the disease based on the legions from the 14 patients, who were all treated for endometriosis at UConn Health’s Center of Excellence in Minimally Invasive Gynecology.
Courtois said the study provided more insight into the complexity of the disease for which there is no cure. Right now, even with a hysterectomy, Luciano has said, there is an 8 percent chance of recurrence.
One of the revelations resulting from their work is the discovery that the immune cells are tolerating the legions, Courtois said.
“We want to understand why. We want to understand how we can counteract that,” Courtois said.
While the findings from the study are exciting Courtois said the work still needs to be expanded.
“It’s a very good study because we go deep into the understanding but we did it in a very small pool of patients,” Courtois said. “We need to expand that.”
Courtois said the establishment of a data and biorepository program in Connecticut is another step into more research, earlier diagnosis and more effective treatments.
The legislature, during its last session, passed a bill that does just that. Governor Ned Lamont signed the bill into law in May. The law was a result of the work of The Endometriosis Working Group, spearheaded by state Rep. Jillian Gilchrest, whose members also called for physicians receiving continuing education on endometriosis.
The law calls on the UCONN Health Center to develop a plan to establish the program to promote early detection, new therapeutic strategies for treatment, and early access to the latest therapeutic options for people who have received a diagnosis.
The biorepository program will collect data along with biological samples, develop procedures for retaining and storing the samples, and collecting samples from a diverse cross-section of communities. The law also requires research regarding the impact of the disease on residents including impact on health and comorbidity, health care costs and overall quality of life.
“We really need to go and understand, ‘ok, this person has x, y and z symptoms, but she has this clinical presentation and the biology is this. How do we link everything together,’” Courtois said. “How do we use everything together to establish good diagnostic tools and treatment?”
Researchers want to be able to get patients an earlier diagnosis as sometimes it can be years after the first symptoms appear, Courtois said.
There is also a lack of knowledge among the medical system, she added. She said the government also needs to recognize this and provide essential funding for research to continue.
“It’s so important to talk about endometriosis. It is an overwhelming disease. It affects 10 percent of women,” Courtois said. “It’s just all around us. At least one person in the room always has it, and maybe doesn’t know it. This is why it is about symptoms but also about lack of knowledge about the unknown and the things we can not diagnose because we just don’t talk about it.”
A report will then be due no later than January 1, 2023 establishing a timeline for establishing the endometriosis data and biorepository program to state legislators.
