Continuing support is requested for the Yale Predoctoral Training Program in Human Genetics and Genomics. The program involves 44 trainers from 14 departments. The vast majority of trainers are primary and joint appointees in the Department of Genetics at the School of Medicine, and virtually all of the trainees over the last funding period have been matriculated in the Molecular Cell Biology, Genetics & Development Track (MCGD) in Biological and Biomedical Sciences at Yale. The focus of the training proposed is the use of genetic and genomic approaches to understand human disease. The main methods used are positional cloning of human and mouse disease genes, complemented by bioinformatics and computational analysis, transgenic and knock-out methods in mouse as well as use of model organisms including Drosophila, C. elegans to define biochemical pathways and permit genetics screening for modifier loci. This integrated program bringing together faculty with diverse backgrounds and expertise provides a rich training environment for students. Admitted students have strong scientific backgrounds and research experience with high academic achievement. Training in the first year includes formal course work and research rotations, leading to selection of the thesis advisor's laboratory. In the second year students complete course work, and take a qualifying exam in which they must demonstrate mastery of genetics and defend two written research proposals. Subsequent years are devoted to dissertation research and preparation of the written thesis. In addition, students engage in supervised teaching experience. Support is requested for 7 graduate students per year for a five year period.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Institutional National Research Service Award (T32)
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Study Section
Special Emphasis Panel (ZHD1-RRG-K (32))
Program Officer
Parisi, Melissa
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Yale University
Schools of Medicine
New Haven
United States
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Sondalle, S B; Baserga, S J; Yelick, P C (2016) The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development. J Dent Res 95:1214-20
Griffin, John N; Sondalle, Samuel B; Del Viso, Florencia et al. (2015) The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus. PLoS Genet 11:e1005018
Yartseva, Valeria; Giraldez, Antonio J (2015) The Maternal-to-Zygotic Transition During Vertebrate Development: A Model for Reprogramming. Curr Top Dev Biol 113:191-232
Sharon, Donald; Tilgner, Hagen; Grubert, Fabian et al. (2013) A single-molecule long-read survey of the human transcriptome. Nat Biotechnol 31:1009-14
Richardson, Lauren A; Reed, Benjamin J; Charette, J Michael et al. (2012) A conserved deubiquitinating enzyme controls cell growth by regulating RNA polymerase I stability. Cell Rep 2:372-85
Magaldi, Thomas G; Almstead, Laura L; Bellone, Stefania et al. (2012) Primary human cervical carcinoma cells require human papillomavirus E6 and E7 expression for ongoing proliferation. Virology 422:114-24
Freed, Emily F; Prieto, Jose-Luis; McCann, Kathleen L et al. (2012) NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing. PLoS Genet 8:e1002892
Magaldi, Thomas G; Buch, Michael H C; Murata, Haruhiko et al. (2012) Mutations in the GM1 binding site of simian virus 40 VP1 alter receptor usage and cell tropism. J Virol 86:7028-42
Freed, Emily F; Baserga, Susan J (2010) The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res 38:4798-806
Freed, Emily F; Bleichert, Franziska; Dutca, Laura M et al. (2010) When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst 6:481-93

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