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Led by James Segars, the Howard W. and Georgeanna Seegar Jones Laboratory of Reproductive Sciences and Women's Health Research supports a broad interest in reproductive conditions but has a particular focus on uterine fibroids, polycystic ovary syndrome (PCOS), and genes causing infertility. PCOS and uterine fibroids are among the most prevalent conditions leading to infertility and diseases in women, occurring with a prevalence of 50 percent and 6 percent, respectively. Despite their prevalence, both conditions remain poorly understood.
One in ten women suffer from endometriosis, a poorly understood disease characterized by the presence of glands and stroma located ectopically. Endometriosis has a variable clinical phenotype: deeply invasive disease, ovarian endometriomas and superficial disease.
Although estrogen-responsive, the disease can be progesterone-resistant in 40% of women. Currently, the molecular mechanisms underlying the disease phenotypes remain poorly understood and diagnostic and predictive tests are needed.
To advance understanding of this enigmatic disease, we assembled a multi-disciplinary team to uniquely pursue research questions. Our studies focus on the development of non-surgical diagnostic tests and study of the molecular underpinnings of the disease. Our collaborative research will enhance understanding of the pathophysiology and provide for more effective management of endometriosis, especially progesterone-resistant disease. The studies are the first step toward a personalized medical treatment of endometriosis.
Uterine fibroids affect millions of women in the U.S. Our past research has revealed that cells within uterine fibroids secrete an extracellular matrix — the substance that surrounds the cells — that is abnormal not only in content, but also in structure. Current studies focus on mechanisms causing the altered growth of fibroid cells, which may lead to the development of new, nonsurgical treatment options or preventive therapies for the millions of women at risk for developing fibroids.
Read more about our research in Finding a Way to Attack Fibroids Through Their Extracellular Matrix.
Past research has examined the molecular underpinnings of the conditions. In the course of those studies, we cloned the gene BRX, now known as AKAP13, which acts to augment steroid hormone signaling and serves to integrate multiple cell signaling pathways. Our group has developed murine models targeting AKAP13 to further understanding of its role in hormone action in the ovary and uterus. Ongoing projects are focused on elucidating the molecular mechanisms involved and on characterizing the ovarian phenotype of an ovary-targeted AKAP13 knockout mouse.
In addition, the laboratory focuses on identification of genes contributing to reproductive diseases using a multidisciplinary team approach with unique resources at The Johns Hopkins University. The genes responsible for many reproductive diseases have yet to be identified, but advances in assisted reproductive technologies provide opportunities for advancement of knowledge. Identification of causal genes may lead to new understanding and development of new strategies for treatment of reproductive diseases.
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