Models and technologies for defining phenotype (RMI)

描述（由申请人提供）： 基因组学研究确定了基因变异与疾病状态之间的关系。然而，今天基因组学研究的一个主要限制是难以应用临床和基础科学研究来评估基因变异的生物相关性。在分子、细胞、组织、器官系统乃至整个生物体的水平上，基因的改变对基因产物功能的改变有什么意义？定义这些特征或疾病变异产生的“表型”已成为基因组学研究的一个重要组成部分，尽管存在问题。NIH路线图确定了需要“能够跨越学科界限并领导和参与综合和团队方法的劳动力”来解决这些类型的问题，并断言短期密集培训计划在发展综合，多学科团队中的价值。我们建议提供一个为期15天的密集培训计划，目标是来自基因组学和生物工程科学的研究生和研究生调查人员。该计划将包括教学和实验室培训的重要组成部分，解决与研究设计，核心技术，数据解释以及成功整合这些类型研究的策略相关的基因组，物理和成像科学研究中的基本问题。重点将放在讨论，演示，并在可行的地方执行的方法和技术，用于表征“表型”

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"