Endometriosis occurs when cells similar to those that line the uterus, called endometrial tissue, grow in abnormal locations, such as the ovaries, fallopian tubes, and abdominal cavity. 

Affecting around 10% of women, particularly during their reproductive years, endometriosis can cause chronic pain, fertility issues, headaches, fatigue, and dysfunction of the bladder and bowel.”

For women diagnosed with endometriosis, treatment options are currently limited. 

One reason for this lack of progress in finding effective treatments has been the limited cellular data available for study of the disease.

However, in a recent study, scientists employed a new technology called single-cell genomics, which enabled them to profile the various cell types involved in endometriosis and make significant strides in understanding the condition.

Utilizing advanced techniques, researchers Lawrenson and colleagues were able to gather an extensive amount of data from the cells of just 21 patients – some with endometriosis and some without – through profiling of the disease.

“We generated a cellular atlas of endometriosis,” says Lawrenson, “after analyzing nearly 400,000 individual cells from these patients. We were able to identify the molecular differences between the major subtypes of endometriosis, including peritoneal disease and ovarian endometrioma.”

Researchers anticipate that this important new database will result in better treatment.

“Identifying these cellular differences at such a detailed level should allow us to better understand the origins, natural progression, and potential therapeutic targets for treatment,” adds Co-author Matthew Siedhoff. 

“We are currently limited to hormonal therapy and surgical excision, with variable success and frequent recurrence of disease.” 

There has been some evidence linking endometriosis to a somewhat increased risk of getting certain cancers. Medical researchers have also observed similarities in the way the disorders work.

“The disease can travel throughout the body, so in many ways it behaves like cancer. But why does endometriosis behave like cancer while rarely becoming cancer? Large-scale next generation sequencing projects have been incredibly helpful in understanding how cancer works and in designing targeted therapeutics. We expect it can do the same for endometriosis,” adds Lawrenson.

Using the new cellular map of endometriosis, researchers at Cedars-Sinai have already started testing treatment targets in a mouse model of the disease.

“This resource can now be used by researchers all throughout the world to study specific cell types that they specialize in, which will hopefully lead to more efficient and effective diagnosis and treatment for endometriosis patients. It really is a game changer,” remarks Lawrenson.

The findings were published today in the journal Nature Genetics.

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