Overview - This Core lies at the very heart of our Center which is relatively unique in its use of various human disease models involving abnormalities of GnRH secretion. Our Center's central vision is that patients with isolated GnRH deficiency [nIHH or KS] and other more common reproductive disorders such as delayed and precocious puberty and hypothalamic amenorrhea represent unique opportunities to define the genetic control of GnRH in the human. Consequently, the recruitment, phenotyping, genotyping, and cataloguing of data from individuals with these disorders are chronicled and entered into our relational database (Progeny) for ongoing investigations foundational to our Center. Consequently, this Core's skilled, stable, well-trained, and multidisciplinary staff are all crucial and dedicated to these longterm programmatic goals. Over the past grant cycle, there has also been a marked increase in regulatory compliance that has fallen to this Core and the Administrative Core's joint responsibilities. Consequently, rising IRB maintenance of approvals/reapprovals, data encryption, and HIPAA compliance have increased the transactional burdens that fall to our Center. Nonetheless, given the relatively high impact of the results of these approaches on the field of reproduction and our unique ability to provide insights directly relevant to the human, we remain committed to the importance of this approach and the efficient functioning of this Core. Clearly, as the number of our DNAs, informed consents, families, and phenotyping data rise, this Core's logistical functions become more important. In addition, the amount of sequencing data, particularly as we enter into the era of full exonic and the genomic sequence, having such a well organized and smoothly running Core is foundational to our Center's vision and function. This is why we have been extraordinarily fortunate to have recruited and retained talented interdisciplinary personnel to its staffing.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54HD028138-22
Application #
8375061
Study Section
Special Emphasis Panel (ZHD1-DSR-L)
Project Start
Project End
Budget Start
2012-04-01
Budget End
2013-03-31
Support Year
22
Fiscal Year
2012
Total Cost
$397,590
Indirect Cost
$120,116
Name
Massachusetts General Hospital
Department
Type
DUNS #
073130411
City
Boston
State
MA
Country
United States
Zip Code
02199
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Cox, Kimberly H (2015) A Kiss and a PRomise. Endocrinology 156:3063-5
Abreu, Ana Paula; Macedo, Delanie B; Brito, Vinicius N et al. (2015) A new pathway in the control of the initiation of puberty: the MKRN3 gene. J Mol Endocrinol 54:R131-9
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Sharer, James D; Leon-Sarmiento, Fidias E; Morley, James F et al. (2015) Olfactory dysfunction in Parkinson's disease: Positive effect of cigarette smoking. Mov Disord 30:859-62
Navarro, Víctor M; Bosch, Martha A; León, Silvia et al. (2015) The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction. Endocrinology 156:627-37

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