The long term goals of this T32 post-doctoral Training Program are twofold: 1). To recruit the best and brightest young physicians and basic science trainees interested in successful academic careers in biomedical research operating at the translational interface between bench and bedside using the contemporary tools of Reproduction, Development, and Genetics;and 2). To provide these high quality trainees with a secure period of stable funding so they can be exposed to: a) a rich spectrum of competitively funded and challenging biomedical problems;b) the most contemporary tools with which to attack them;c) optimal didactic experiences;and d) carefully mentored research experiences during periods of increasing autonomy. Taken together, this tight matrix of interwoven experiences equips our trainees with the foundational experiences necessary to achieve independence in research as is attested to by this program's track record of previous trainees. The key elements of success in meeting these goals are a rich pool of talented applicants and an exciting context within an Academic Medical Center. Our parent institution, the Massachusetts General Hospital (MGH), has a strong focus on human disease/disease models with a rich tradition of inter-disciplinary collaboration across a broad mix of talented training faculty (Tables 1 &2). Each faculty member has been carefully selected by the Program Directors (PDs) on the basis of their demonstrated commitment to the independence of their trainees, exciting and important biologic problems on which to work, and stable funding. The spectrum of our program's planned research projects occurs in the laboratories of 11 mid- and senior level faculty members (Tables 1-4), each focused on key questions in human development, reproduction, systems and molecular biology, and/or genetics. Our Training Program taps into an exciting blend of basic and clinical researchers who have chosen to focus their interdisciplinary skills on human disease targets, i.e. the genetics of Mendelian development disorders like Isolated GnRH Deficiency, fetal congenital lung and diaphragmatic anomalies, neurologic disorders, as well as complex genetic disorders such as polycystic ovarian syndrome (PCOS). Given our nation's pressing need and expressed priorities for training translational researchers pointed out by the Institute of Medicine's Clinical Research Roundtable (References Cited: 1 &2) as well as the powerful synergies emerging in reproduction, development and genetics, we propose to continue our current level of training 4 physicians and/or basic scientists for the next 5 years of this competing renewal application.
This postdoctoral training program seeks to take outstanding physicians and basic scientists who desire careers in academic medicine operating at the bedside to bench translational interface and immerse them in closely mentored research experiences and intensive didactic programs under the tutelage of a dedicated training faculty working on challenging and important biological problems. Their training experiences will focus upon the disciplines of reproductive endocrinology, developmental biology, genetics, and clinical research as the core tool kits that will enable them to investigate important biological problems in men and women. These include disorders of sexual maturation, defects causing infertility in both sexes, and reproductive failure, i.e. important reproductive disorders with significant morbidity in our society.
|Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A et al. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49:238-248|
|Cox, Kimberly H (2016) A Bisphenol by Any Other Name... Endocrinology 157:449-51|
|Brand, Harrison; Collins, Ryan L; Hanscom, Carrie et al. (2015) Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation. Am J Hum Genet 97:170-6|
|Shaw, N D; Srouji, S S; Welt, C K et al. (2015) Compensatory Increase in Ovarian Aromatase in Older Regularly Cycling Women. J Clin Endocrinol Metab 100:3539-47|
|Stamou, M I; Cox, K H; Crowley Jr, William F (2015) Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the ""-Omics"" Era. Endocr Rev 36:603-21|
|Cox, Kimberly H (2015) A Kiss and a PRomise. Endocrinology 156:3063-5|
|Miraoui, Hichem; Dwyer, Andrew A; Sykiotis, Gerasimos P et al. (2013) Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet 92:725-43|
|Chew, Sheena; Balasubramanian, Ravikumar; Chan, Wai-Man et al. (2013) A novel syndrome caused by the E410K amino acid substitution in the neuronal ?-tubulin isotype 3. Brain 136:522-35|
|Yang, Jasmine J; Caligioni, Claudia S; Chan, Yee-Ming et al. (2012) Uncovering novel reproductive defects in neurokinin B receptor null mice: closing the gap between mice and men. Endocrinology 153:1498-508|
|Raivio, Taneli; Avbelj, Magdalena; McCabe, Mark J et al. (2012) Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab 97:E694-9|
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