BMBS COST Action BM1105
GnRH deficiency: Elucidation of the neuroendocrine control of human reproduction
The Action will investigate the neuroendocrine mechanisms that are integrated at the hypothalamic level and regulate the complex organ network controlling reproduction. Implicated genes/pathways have been identified through genetic investigations of rare patients with isolated GnRH deficiency, who display reproductive failure. Despite knowledge of 16 disease genes, multiple additional genes/mechanisms remain undiscovered, requiring higher-order collaborations for full elucidation. Through a collaborative network of physician-scientists and biologists, the Action will deliver: (i) a database with de-identified genetic and phenotypic data on at least 1,000 GnRH-deficient patients, their families, and unaffected controls; (ii) 1 or more disease gene(s) in each patient, and/or 10 or more novel disease genes; (iii) elucidation of newly identified genes’ roles in animal/cell-based systems; and (iv) guidelines for genetic counseling of GnRH-deficient patients based on the emerging disease architecture. Reasons for undertaking the Action in the COST framework are: (i) a critical yet disjointed mass of experts exists across Europe; (ii) participants are currently nationally funded; (iii) several participants’ countries do not participate in the e-RARE2 European funding scheme for rare diseases. European leadership in reproductive research/medicine will be augmented by the Action’s anticipated benefits; (i) collaboration among previously competing groups; (ii) shared use of cutting-edge genetic methodologies; and (iii) recruitment/training of young investigators.
(Descriptions are provided by the Actions directly via e-COST.)
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