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Email: ukaiser@bwh.harvard.edu
Phone: 617-525-8867
My research group studies the neuroendocrine regulation of reproductive function, using basic and translational research approaches. These studies include research focused on G protein-coupled receptors and their cognate ligands. We have stuied the effects of human mutations in GNRHR on the receptor's cell surface expression, ligand binding, and signaling capacity to activate LH and FSH production and release. A major focus of our research is to elucidate the mechanisms underlying GnRH pulse frequency-dependent differential regulation of gonadotropin gene expression and thereby LH and FSH synthesis and secretion, relevant to reproductive disorders in women such as hypothalamic amenorrhea and polycystic ovarian syndrome. We have also studied the effects of loss-of-function mutations identified in KISS1R, PROKR2, and NK3R in patients with hypogonadotropic hypogonadism, and mutations in KISS1, KISS1R, MKRN3, DLK1, and MECP2 in patients with central precocious puberty. My translational research includes clinical and laboratory observations in humans, investigations in genetically modified mouse models, and molecular and cellular studies to elucidate the biological underpinnings of disorders of female reproduction including precocious or delayed puberty, polycystic ovarian syndrome, hypothalamic amenorrhea, and menopausal vasomotor symptoms. These studies contribute to a deeper understanding of reproductive development and function, and lead to improved management of reproductive disorders, and may also contribute to the development of innovative approaches to contraception.