Gene mutation discovery sparks hope for endometriosis screening

Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition marked by chronic pelvic pain and infertility that affects millions of women. The researchers’ discovery of a new gene mutation provides hope for new screening methods. The new study explored an inherited mutation located in part of the KRAS gene, which leads to abnormal endometrial growth. In endometriosis, uterine tissue grows in other parts of the body, such as the abdominal cavity, ovaries, vagina, and cervix. The condition is often hereditary and is found in 5 to 15 percent of women of reproductive age, affecting over 70 million women worldwide. Although the disorder has been studied for many years, its exact cause and how it develops remained unclear.