Genetics and Genomics of Human Disease

要求继续支持耶鲁大学人类遗传学和博士前培训计划 基因组学。该项目涉及来自14个部门的44名培训员。绝大多数教练员都是 医学院遗传学系的初级和联合任命人员，以及几乎所有 在过去的资助期间，学员已被录取分子细胞生物学、遗传学和 耶鲁大学生物和生物医学科学发展轨迹(MCGD)。培训的重点 建议使用遗传学和基因组学方法来理解人类疾病。主要方法 使用的是人类和小鼠疾病基因的定位克隆，辅之以生物信息学和 小鼠的计算分析、转基因和基因敲除方法以及模型生物的应用 包括果蝇、线虫，以定义生化途径并允许对修饰物进行遗传筛选 精神错乱。这一综合计划将具有不同背景和专业知识的教师聚集在一起，提供了 为学生提供丰富的训练环境。被录取的学生有很强的科学背景和研究能力 有较高学术成就的工作经验。第一年的培训包括正规课程和 研究轮换，最终选择论文导师的实验室。二年级的学生 完成课程作业，并参加资格考试，在考试中，他们必须证明自己掌握了遗传学和 为两份书面研究提案辩护。接下来的几年都致力于论文研究和 准备书面论文。此外，学生还参与了督导教学的体验。支持 要求在五年内每年招收7名研究生。

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.