Serdar Bulun, MD / J. Julie Kim, PhD
Northwestern University Feinberg School of Medicine
Endometriosis is a disease that promotes infertility and pain in reproductive-aged women with no effective treatments insight. It remains unclear why only some women develop endometriosis and others do not. While there is indeed a hereditary component to this disease, research focusing on the genetic contribution to endometriosis has not yielded significant advances due to the difficulty of associating genetic alterations with the pathophysiology of the disease. In this study, adult somatic cells, in our case, peripheral blood cells, will be reprogrammed to induced pluripotent stem cells (iPSCs) from women with endometriosis in order to study the contribution of the genetic identities of the women. The iPSCs will then be differentiated to endometrial stromal fibroblasts and ultimately, the response to estrogen and progesterone will be investigated with comparisons done on cells from healthy controls. As it is well established that hormone response of the endometriotic lesions and the eutopic endometrium is abnormal, this approach will demonstrate whether genetic variants within each patient is associated with aberrant hormone action in women with endometriosis. Our novel approach and technologies will generate invaluable information and provide a new tool to study endometriosis in ways that could never be done before.