GENETICS AND GENOMICS OF HUMAN DISEASE

描述（由申请人提供）：为耶鲁大学人类遗传学和基因组学博士前培训项目提供持续支持。该项目涉及来自10个部门的43名培训师。绝大多数培训师都是医学院遗传学系的初级和联合任命人员，在上一个资助期内，几乎所有的受训人员都是通过耶鲁大学生物和生物医学科学项目的遗传和发展轨道录取的。拟议培训的重点是使用遗传和基因组方法来了解人类疾病。使用的主要方法是人类和小鼠疾病基因的定位克隆，辅以生物信息学和计算分析，小鼠转基因和敲除方法，以及使用包括果蝇，秀丽隐杆线虫和酵母在内的模式生物来确定生化途径并允许对修饰位点进行遗传学筛选。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作业和研究轮转，从而选择论文导师的实验室。第二年，学生完成课程作业，参加资格考试，他们必须证明对遗传学的掌握，并为两份书面研究提案辩护。随后的几年致力于论文研究和书面论文的准备。此外，学生还参与督导教学。毕业生继续在学术界和工业界从事科学研究，通常是早期的生物技术。随着人类遗传学的机会越来越多，对人类疾病的关注也越来越多，在过去几年中，遗传学和发展轨道的申请人数量显著增加。要求支助每年10名研究生，为期5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.