Promising new research on endometriosis

Over 500,000 women in Canada have endometriosis and many don’t know or are diagnosed too late. Advances are finally being made.

It is a silent disease and one of those diseases that doctors often just ascribe as IBS (Irritable Bowel Syndrome) or even fibromyalgia and so, undiagnosed, it wreaks havoc on women’s bodies until it may turn into cancer and become fatal later in life.

Endometriosis is tissue which lines the uterus, but goes astray outside the uterus and can bind itself to other organs. It most commonly affects the fallopian tubes, ovaries and pelvic tissues. There are various stages and it can be incredibly painful, oftentimes requiring surgery. It can even lead to infertility. Even after diagnosis, the understanding of disease biology and progression is poor, as well as the understanding of the relationships to other lesion diseases, such as adenomyosis. Current treatments include surgical removal of lesions and drugs that suppress ovarian hormone (mainly estrogen) production.

New research however, is very promising and hopeful. It all has to do with genetics through gene research. An Oxford University team sequenced the DNA of women in 32 families who had been diagnosed with endometriosis. The study group found many of the women with severe cases had a gene variant called NPSR1, which hadn’t previously been linked to endometriosis. But it had been connected to other inflammatory diseases such as athma and rheumatoid arthritis.

From there, the research turned to rhesus macaques, a monkey group that also develops endometriosis. Sequencing the DNA of 850 of these monkeys where 135 were known to have the disease, they saw variants. A further study of 3,000 known endometriosis human patients and about 7,000 who did not have the disease confirmed the variant finding. 

The scientists then attempted gene therapy in mice and the results so far are proving promising. Human trials are still a way off, but are looking hopeful. This is a start and a new path in exploring a disease in women that has been historically underfunded, as much of women’s health has been.

Common signs and symptoms of endometriosis:

• Painful periods
• Pain associated with bowel movements and/or urination
• Excessive bleeding, including between periods
• Infertility
• Somes fatigue, diarrhea, constipation or bloating, especially during menstruation

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