High Resolution Gene Expression Mapping of Polycystic Ovary Syndrome (PCOS) and Reproductively Normal Ovaries

PCOS is the most common form of infertility among reproductive age women affecting 6-10% of women world-wide. The syndrome is characterized by hyperandrogenism, irregular menstrual cycles and polycystic ovaries. The underlying cause of PCOS is poorly understood. A major impediment to understanding the pathology of PCOS is the lack of appropriate experimental models. The ovary is the primary source of testosterone in women and the site of oocyte development and ovulation; all of which are impaired in PCOS. We will use a powerful new technology, single cell RNAseq (scRNA-Seq), to develop a model to study human ovarian biology in PCOS. scRNA-Seq determines the quantity and cell identity, and gene expression profile of individual cells cell. ScRNAseq of normal and PCOS ovarian biopsies from IVF procedures will identify how the ovary’s anatomy and its ability to produce PCOS-associated hormones are altered in PCOS. This study will produce a multi-faceted understanding of the structural and molecular function of healthy human ovaries and molecular pathologies of the PCOS ovary thus informing treatment for PCOS. Furthermore, these studies provide the critical baseline data to study the molecular effect of ovarian function of PCOS-associated genetic variants making personalized medicine achievable.