Recent research presented during the annual American Society of Reproductive Medicine (ASRM) meeting in Baltimore, Maryland, in October revealed several novel gene effects behind endometriosis. In an oral presentation, Dr. Kenneth Ward, CEO of Juneau Biosciences, described the alterations found to be linked with endometriosis by modern DNA sequencing technologies.
Researchers studied hundreds of women with endometriosis and compared them to healthy controls using the latest DNA sequencing techniques. They observed that serious mutations were found in DNA samples from women diagnosed with endometriosis, most of them not described in previous studies. Although some of the genes’ functions were completely unknown, several of the identified genes play key roles in the normal function of the human immune system, which once impaired accounts as one of the causes of endometriosis. In fact, several studies show an association between endometriosis and the risk of developing autoimmune diseases, the latter occurring when the patient’s immune system attacks the body’s tissues and organs.
Based on these preliminary results, researchers want to discover DNA tests that can easily diagnose endometriosis. At present, the only method for clearly diagnosing endometriosis is laparoscopy (i.e. keyhole surgery), a surgical procedure done in the pelvis through small (0,5-1,5 cm) incisions with the help of a camera. Because it is an invasive procedure, disease diagnosis usually occurs more than 10 years after the onset of symptoms, underlining the need for a better diagnostic approach.
As a consequence of its excellence, the ASRM Scientific Program Committee recognized this work with the “Endometriosis Special Interest Group Prize Paper” award, Juneau announced in a company release. The study is still ongoing and women can enroll at the study website for Juneau Biosciences, a company dedicated to offering diagnostic services for women’s health issues. The end result may be the approval of a cheap and convenient DNA test that can be used to diagnose endometriosis in women with long-lasting pelvic pain.
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