major new discovery on the origin of the disease


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On Saturday October 16, 2021, Science & Vie magazine shared the discovery of the scale of a new study on endometriosis.

A gynecological disease which is accompanied by chronic pain during the period of menstruation, endometriosis concerns 10% of the female population. It can cause daily difficulty in moving, lead to discomfort and potential infertility. For the moment, current treatment is limited to surgery and hormonal treatments, with frequent side effects. New research from the University of Oxford, Baylor College of Medicine, University of Wisconsin-Madison and Bayer AG could advance medicine. Science & Life reported the results published in the specialized journal Science Translational Medicine : the gene causing endometriosis has been discovered.

The NPSR1 gene has been identified as the one that increases the risk of developing the disease. Research teams have performed genetic analyzes using DNA from humans, with cases of endometriosis in their families, and rhesus macaques. Also, 11,000 women, affected or not, participated in the experiment. The trail of NPSR1 was traced after a first discovery, that of chromosome 7p13-15, suspected to be also involved.

A “complex and common metabolic” disease

“IThis is one of the first examples of DNA sequencing in non-human primates to validate study results, and the first to have a significant impact on understanding the genetics of complex and common metabolic diseases.Jeffrey Rogers, study co-author and professor at Baylor’s Human Genome Sequencing Center, said in a statement from Oxford. Future drug treatments are under development.

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