Genetics and Genomics of Human Disease

描述(由申请人提供)：要求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的35-40年。该项目涉及来自15个部门的49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。使用的主要方法是新开发的新一代人类特征基因座发现测序方法，辅之以生物信息学和计算分析。该计划的重点是与模式系统遗传学和基因组学相结合，这可以用来定义将基因突变与疾病表型联系起来的途径。为此，对苍蝇、蠕虫、斑马鱼、小鼠和诱导的多能干细胞进行遗传和基因组分析的研究人员在这项培训拨款中发挥了重要作用。这种综合培训环境旨在为学员提供广泛的遗传学和基因组学接触，以及丰富的培训环境，为他们在科学领域的职业生涯做好准备。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。第一年的学生由耶鲁大学资助；学生在第二年和第三年由培训助学金支持，之后由培训系实验室的资金支持，直到毕业。第一年的培训包括正式的课程工作和研究轮换，导致选择 论文导师和实验室。在第二年，学生们完成课程作业，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，并为两项书面研究计划辩护。在接下来的几年里，我们将致力于论文研究、实验和分析技能的发展，以及书面和口头陈述能力的培养，从而为书面论文做准备。此外，学生还参与了督导教学体验。要求提供为期5年的支持，每年支持7名正在接受培训的2年级和3年级博士生。学员的结果被记录在案，表明绝大多数毕业生在完成博士学位、在高影响力期刊上发表工作以及在科学方面继续学习方面取得了很高的成功。

DESCRIPTION (provided by the applicant): Continuing support is requested for years 35-40 of the Yale Predoctoral Training Program in Human Genetics and Genomics. The program involves 49 trainers from 15 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 newly developed next generation sequencing methods for human trait locus discovery, complemented by bioinformatics and computational analysis. An emphasis of the program is integration with model system genetics and genomics, which can be used to define pathways that link gene mutations to disease phenotypes. To this end, investigators performing genetic and genomic analysis of flies, worms, zebrafish, mouse and induced pluripotent stem cells play a major role in this Training Grant. This integrated training environment is intended to provide trainees with broad exposure to genetics and genomics and a rich training environment that prepares them for careers in science. Admitted students have strong scientific backgrounds and research experience with high academic achievement. First year students are supported by Yale; students are supported by the training grant in years 2 and 3, and thereafter by funds in Training Faculty laboratories until graduation. Training in the first year includes formal course work and research rotations, leading to selection of the thesis advisor and 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, development of experimental and analytic skills, along with ability in written and oral presentation, leading to preparation of the written thesis. In addition, students engage in supervised teaching experiences. Support is requested for 5 years for support of 7 Ph.D. students per year who are in years 2 and 3 of their training. Outcomes of trainees are documented and indicate high success in completion of the Ph.D., publication of work in high impact journals, and continuation in science of the vast majority of graduating students.