Genetics and Genomics of Human Disease

描述(由申请人提供)：申请继续支持耶鲁大学人类遗传学和基因组学博士前培训计划。该项目涉及来自14个部门的44名培训员。绝大多数培训员是医学院遗传学系的主要和联合任命的人员，在上一个资助期内，几乎所有的培训者都被耶鲁大学生物和生物医学科学的分子、细胞生物学、遗传学和发育轨道(MCGD)录取。拟议的培训的重点是使用遗传和基因组方法来了解人类疾病。主要的方法是人类和小鼠疾病基因的定位克隆，辅之以生物信息学和计算分析，小鼠的转基因和敲除方法，以及使用包括果蝇和线虫在内的模式生物来确定生化途径并进行修饰基因的遗传学筛选。这一综合项目汇集了具有不同背景和专业知识的教师，为学生提供了丰富的培训环境。被录取的学生具有较强的科学背景和研究经验，学术成就较高。第一年的培训包括正式的课程工作和研究轮换，从而选择论文导师的实验室。在第二年，学生完成课程作业，并参加资格考试，在考试中，他们必须证明对遗传学的掌握，并为两个书面研究方案辩护。随后的几年将用于论文研究和书面论文的准备。此外，学生还参与了督导教学的体验。要求在五年期间每年为7名研究生提供支助。

DESCRIPTION (provided by applicant): 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 and 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.