GENETICS AND GENOMICS OF HUMAN DISEASE

描述（由申请人提供）：继续支持，要求在人类遗传学和基因组学的耶鲁大学博士前培训计划。 该方案涉及来自10个部门的43名培训员。 绝大多数培训师是医学院遗传学系的主要和联合任命人员，在过去的资助期间，几乎所有的学员都通过耶鲁大学生物和生物医学科学项目的遗传学和发展轨道被录取。 拟议培训的重点是利用遗传和基因组方法了解人类疾病。 主要的研究方法是人和小鼠疾病基因的定位克隆，辅以生物信息学和计算分析，小鼠的转基因和敲除方法，以及使用模式生物包括果蝇、C. elegans和酵母来定义生物化学途径并允许对修饰基因座进行遗传学筛选。 这个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。 被录取的学生有很强的科学背景和研究经验，具有很高的学术成就。 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，他们必须证明掌握遗传学和捍卫两个书面研究提案。 随后几年致力于论文研究和书面论文的准备。 此外，学生从事监督教学经验。 毕业生继续在科学，无论是在学术界和工业界，最常见的是早期阶段的生物技术。 随着人类遗传学机会的增加和对人类疾病的日益关注，过去几年来遗传学和发展轨道的申请人数显着增加。 要求每年支助10名研究生，为期五年。

DESCRIPTION (provided by applicant): Continuing support is requested for the Yale Predoctoral Training Program in Human Genetics and Genomics. The program involves 43 trainers from 10 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 through the Genetics and Development Track of the program in Biological and Biomedical Sciences at Yale University. 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, and yeast 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. Graduates continue in science, both in academia and in industry, most often early-stage biotechnology. With the increasing opportunities in human genetics and increased focus on human disease, there has been a marked increase in the number of applicants to the Genetics and Development Track in the last several years. Support is requested for 10 graduate students per year for a five-year period.