Cassidy De Masi
Genetics
Dr. Barbato
November 21st, 2025
Identifying Genetic Ties within Endometriosis
Endometriosis is an inflammatory condition that causes hormonal tissue lesions to implant on organs such as the ovaries, uterus, intestines, fallopian tubes, and other organs in the pelvic region. It has also been known in rare cases to migrate out and target the lungs and even the brain. These lesions respond to the hormonal changes that occur within a woman's body and tend to bleed during menstruation. Common symptoms of endometriosis are painful periods, painful intercourse, infertility, fatigue, difficulty urinating, and painful bowel movements. Women who are diagnosed with other autoimmune conditions, such as POTS, MCAS, PCOS, and Interstitial Cystitis, are encouraged to cross-reference their symptoms with Endometriosis patients. Endometriosis is a common disease affecting almost all women who have one or more of these disorders.
There is no cure for Endometriosis. Patients with Endometriosis are often diagnosed 8 years after they present symptoms. The only two current treatments for Endometriosis are birth control high in progestin and minimally invasive laparoscopic surgery. Researchers are just starting to look into the genetic linkage that occurs in Endometriosis. Some studies are trying to obtain enough information to examine different single-nucleotide polymorphisms in women who have the disease and those who do not.
However, researchers at the University of Oxford have been looking into Endometriosis. A researcher conducted the largest Endometriosis genetic study ever conducted. The results stated there were "42 areas across the genome that harbour variants that increase risk of endometriosis" (University of Oxford, 2023). These variants were able to be linked to the layouts of the molecules possessed by endometrial tissue and blood. The genes were declared as "differently expressed in these tissues and therefore had a likely role in disease development" (University of Oxford, 2023). This identification of genes is not only important for identifying the root cause of Endometriosis, but also for treating other ailments that come with it. This study noted that there was a shared basis of chronic pain sites associated with the genes that Endometriosis is linked to. These are potentially all linked, and with the discovery of more potential causes of Endometriosis, the more that comes out about potential autoimmune conditions that can be solved with science.
Currently, little to no research is being conducted in the US on Endometriosis. I am 1 in 10 women who suffer from this disease, and it is frustrating to see something that affects 1 in 10 women's quality of life being ignored within this country. A good site to educate on Endometriosis is https://www.theendometriosisfoundation.org/understanding-endometriosis. The foundation does a fantastic job of representing the lifestyle those with Endo lead.
Sources
University of Oxford. (2023, March 14). Global study shows the experience of Endometriosis is rooted in genetics | University of Oxford. Www.ox.ac.uk. https://www.ox.ac.uk/news/2023-03-14-global-study-shows-experience-endometriosis-rooted-genetics
About Endometriosis. (n.d.). The Endo Foundation. https://www.theendometriosisfoundation.org/understanding-endometriosis
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