This application seeks to continue for years 06-10 the postdoctoral training grant entitled, "Research Training Program for Medical Geneticists." The program's overall goal is to provide a mentored research experience for M.D. medical geneticists to perform productive independent basic/ translational research and to develop the skills and experience required to effectively compete for federal funding and become academic leaders in medical genetics and genomics. The program's emphasis is on basic and translational research in genetics and genomics, including the application of recent and continuing advances in genome sequencing and analysis, bioinformatics, and systems biology analyses, towards the understanding of the genetics/genomics of monogenic and complex traits, and to translate these findings into improved diagnosis, prevention, and new effective therapies. MD trainees chosen for this program will have completed a residency in Medical Genetics. Our Medical Genetics residency programs provides a pipeline of outstanding candidates who have demonstrated a commitment to a basic/ translational research career. Highly qualified medical geneticist applicants from other residency training programs and underrepresented minority candidates will also be recruited. Trainees will be supported for a period of 2 to 3 years under close supervision of one of our Research Mentor faculty, and each trainee will have an appropriate Advisory Committee. Previous trainees from this program have successfully obtained academic/ industry positions and have applied for/ received federal funding. This training program builds upon considerable resources at Mount Sinai including: 1) an exceptional group of funded Research Mentors in multidisciplinary research programs, as well as faculty who serve as Clinical Laboratory Preceptors and Research Core Directors;2) our accredited Medical Genetics training programs in all the ABMG specialties;3) didactic elective courses in basic translational research methodology, and responsible conduct of research, 4) an infrastructure of Shared Research Facilities (SRFs) and disease-oriented and core-technology-based research institutes, including our new Institute for Genomics and Multiscale Biology. All trainees will participate in a monthly Training Grant Conference, our weekly work-in progress conference, weekly Genetics/Genomics seminar series, and our annual Research Day with our External Advisory Committee. This training program will meet a critical need for independent medical geneticists who can translate advances in genetics/ genomics into improved diagnosis and treatment of human disease. !

Public Health Relevance

The remarkable recent advances in genetics and genomic technologies have led to greater understanding of common diseases and cancers, with the implicit prospects of their improved diagnosis and treatment. Medical geneticists are especially qualified to carry out research that will further combat common diseases. This training grant is designed to provide mentored research training to outstanding physician-geneticists so they may advance research and develop independent research careers.

National Institute of Health (NIH)
Institutional National Research Service Award (T32)
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Special Emphasis Panel (ZGM1)
Program Officer
Haynes, Susan R
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Icahn School of Medicine at Mount Sinai
Schools of Medicine
New York
United States
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Abul-Husn, Noura S; Owusu Obeng, Aniwaa; Sanderson, Saskia C et al. (2014) Implementation and utilization of genetic testing in personalized medicine. Pharmgenomics Pers Med 7:227-40
Rucker, Janet C; Webb, Bryn D; Frempong, Tamiesha et al. (2014) Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. Brain 137:1068-79
Daskalakis, Nikolaos P; Cohen, Hagit; Cai, Guiqing et al. (2014) Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes. Proc Natl Acad Sci U S A 111:13529-34
Webb, Bryn D; Frempong, Tamiesha; Naidich, Thomas P et al. (2014) Mirror movements identified in patients with moebius syndrome. Tremor Other Hyperkinet Mov (N Y) 4:256
McGuire, Peter J; Tarasenko, Tatiana N; Wang, Tony et al. (2014) Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency. Dis Model Mech 7:205-13
Pinto, Dalila; Delaby, Elsa; Merico, Daniele et al. (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677-94
Tavassoli, Teresa; Kolevzon, Alexander; Wang, A Ting et al. (2014) De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. BMC Med Genet 15:35
Brandt, Tracy; Blanchard, Leah; Desai, Khyati et al. (2013) 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. Eur J Med Genet 56:619-23
Kirmse, Brian; Hobbs, Charlotte V; Peter, Inga et al. (2013) Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants. Pediatr Infect Dis J 32:146-50
Balwani, Manisha; Grace, Marie E; Desnick, Robert J (2011) Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. J Inherit Metab Dis 34:789-93

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