Models and technologies for defining phenotype (RMI)

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DESCRIPTION (provided by applicant): Genomics research identifies relationships between gene variation and disease state. However, a major limitation of genomics research today is the difficulty in applying clinical and basic science research to assess the biologic relevance of gene variation. What is the significance of an alteration in a gene with respect to altered function of the gene product at the level of the molecule, the cell, the tissue, the organ system, and ultimately, the organism? Defining these characteristics or "phenotype" engendered by disease variation has emerged as an important, albeit problematic component of genomics research. The NIH Roadmap identifies the need for "workforces capable of crossing disciplinary boundaries and leading and participating in integrative and team approaches" to address these types of problems, and asserts the value of short intense training programs in developing integrated, multidisciplinary teams. We propose to offer an intense 15 day training program that targets both graduate and post-graduate investigators from Genomics and Bioengineering Sciences. The program will include a significant component of didactic and laboratory training that addresses fundamental issues in Genomic, Physical, and Imaging Science research related to research design, core techniques, data interpretation, and strategies for successful integration of these types of research. A heavy emphasis will be placed on discussing, demonstrating, and where feasible performing approaches and techniques useful for characterization of "phenotype"