Genetics and Genomics of Human Disease

要求继续支持耶鲁大学人类遗传学博士前培训计划， 基因组学。该方案涉及来自14个部门的44名培训员。绝大多数培训师都是 主要和联合任命的遗传学系在医学院，几乎所有的 在过去的资助期内，学员已被录取在分子细胞生物学，遗传学和 耶鲁大学生物和生物医学科学发展轨道（MCGD）。培训的重点 建议使用遗传学和基因组学方法来了解人类疾病。的主要方法 使用的是人类和小鼠疾病基因的定位克隆，辅以生物信息学， 计算分析、小鼠中的转基因和敲除方法以及模式生物的应用 包括果蝇C. elegans定义生化途径并允许遗传学筛选修饰剂 的位点这个综合计划汇集了具有不同背景和专业知识的教师， 丰富的学生培训环境。被录取的学生有很强的科学背景和研究 具有较高的学术成就。第一年的培训包括正式课程， 研究轮换，导致论文导师的实验室的选择。在第二年的学生 完成课程作业，并参加资格考试，他们必须证明掌握遗传学和 为两份书面研究提案辩护。随后的几年致力于论文研究， 论文写作的准备。此外，学生从事监督教学经验。支持 要求每年招收7名研究生，为期5年。

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.