Nature Genetics: Mapping unique and detailed molecular maps of endometriosis

Researchers have created a unique and detailed molecular map of endometriosis to help improve treatment options
for millions of women with the disease.

The study was published in the journal Nature Genetics
.

"Endometriosis has been an understudied disease, in part because limited cellular data has hindered the development of
effective treatments.
In this study, we applied a new technique called single-cell genomics, which allowed us to analyze the many different cell types that contribute to this disease," said Kate Lawrenson, Ph.
D.
, associate professor of obstetrics and gynecology at Cedar-Sinai Medical Center, corresponding author
of the study.

Endometriosis is when endometrial cells or cells resembling endometrial tissue grow in the wrong places, most commonly in the ovaries, fallopian tubes, and abdominal cavity
.
The disease affects about 10% of women and usually occurs during their reproductive years
.
Patients with this condition experience chronic pain, infertility, headaches, fatigue, and defecation and bladder dysfunction
.

Currently, there are few good treatment options
for women diagnosed with endometriosis.
Lawrenson and her collaborators used state-of-the-art methods to analyze endometriosis, allowing them to collect large amounts of data from cells from 21 patients, some with gynecological conditions and others without
.

"After analyzing nearly 400,000 cells from these patients, we generated a cell map
of endometriosis.
We were able to identify molecular differences between the major subtypes of endometriosis, including peritoneal disease and ovarian endometrioma," Lawrenson said
.

The researchers hope this important new database will improve healthcare
.

"Identifying these cellular differences at such a detailed level should lead to a better understanding of the origins, natural progression, and potential therapeutic targets of this disease
.
" We are currently limited to hormone therapy and surgical resection with low success rates and frequent disease recurrences," said
Matthew Siedhoff, another author of the study.

Endometriosis is associated
with a slightly increased risk of certain cancers.
Medical scientists often observe similarities
in how these diseases work.

"The disease can spread throughout the body, so it behaves like cancer
in many ways.
But why does endometriosis behave like cancer but rarely become cancer? Large-scale next-generation sequencing projects are important in
understanding how cancer works and designing targeted therapies.
We hope it will do the same for endometriosis," Lawrenson said
.

Researchers have begun using this new endometriosis cell atlas to test therapeutic targets in mouse models of the disease
.
"This resource can now be used by researchers around the world to study specific cell types they specialize in, which will hopefully lead to more efficient and effective diagnosis and treatment
for patients with endometriosis.
" This is truly a game changer! ”