OverviewFrom its inception, the goals of Harvard Reproductive Endocrine Sciences Center the have strongly reflected its location within Harvard’s academic health center and its strong focus on two evolving themes - human investigation and genetics. In recent years, the Human Genome Project has provided exponenetial opportunities for investigation in human reproduction. We also appreciated the unusual opportunity the genome offered for patients with Idiopathic Hypogonadotropic Hypogonadism (IHH) and Kallmann’s Syndrome (KS).
Investigations of GnRH DeficiencyGnRH deficiency exists in both Idiopathic Hypogonadotropic Hypogonadism (IHH) and Kallmann’s Syndrome (KS). Together, this confluence of opportunities presented us with the potential to gain unusual insights into GnRH physiology. Thus, we married these two themes in hopes of providing fundamental insights into the genetic control of GnRH secretion in the human. Despite GnRH’s acknowledged centrality to reproductive integrity, understanding of the genetic basis of its physiologic control in any species has been elusive. In part, this problem has been because such a high degree of species specificity characterizes its regulatory control. Whereas lower animals rely heavily on pheromones and light dark cycles to synchronize GnRH secretion and reproduction, both are severely attenuated in humans. Thus, across evolution homo sapiens has presumably utilized several different genes or ensembles to modify GnRH secretion as part of its reproductive strategies to adapt and evolve. Specific knowledge of these genes remains one of the great mysteries of biology. We focus on 2 novel receptor genes critical to the control of GnRH physiology in the human that our Center’s Investigators and others have identified to cause IHH and KS during this past grant cycle - GPR54, Kiss1, and FGFR1. We have assembled a multidisciplinary team that has demonstrated that: a) mutations in either of these 3 genes cause IHH and KS, conditions which cause infertility in both men and women; b) the breadth of the phenotypic spectrum of these mutations and their full biology within the reproductive system is not fully described; c) their genetics is complex and strongly suggests interactions with other, yet-to-be discovered other genes such as the ligands for these receptors; and d) these genes also play important biological roles in several non-reproductive systems.
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