Genetics and Genomics of Human Disease

项目摘要/摘要 要求继续支持耶鲁大学人类遗传学博士前培训计划41-46年 和基因组学。该方案由44名培训员组成，其中大多数是初级或二级任命者。 在医学院遗传学系。在上一个资助期内几乎所有的受训人员 已进入分子细胞生物学、遗传学和发育轨道(MCGD)的生物学和 耶鲁大学生物医学科学专业。拟议的培训方案侧重于使用遗传、基因组和 了解人类生物学和疾病的计算方法。培训包括三个核心 领域：1)人类健康和疾病的遗传学，包括疾病基因发现和 对人类遗传变异的解释；2)从以下方面获得生物学见解的计算方法 人类和模型系统中的复杂基因组数据集；以及3)模型生物中的实验研究 了解人类基因变异如何影响人类生物学和疾病。培训人员包括 在这些领域中的每一个领域都是世界领导者的调查人员。此集成培训环境可提供 广泛接触遗传学、基因组学和计算生物学的学员，以及丰富的培训环境 这为他们在科学领域的职业生涯做好了准备。被该项目录取的学生有很强的科学背景 有较高学术成就的研究经验。一年级学生由耶鲁大学资助。学生 然后在第二年和第三年由培训补助金支持，之后由培训学院实验室的资金支持 直到毕业。第一年的培训包括侧重于遗传学、基因组学和数据的正式课程工作 分析，以及研究轮换导致选择论文顾问和实验室。在第二个 今年，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 并为两份书面研究提案辩护。接下来的几年都致力于学位论文的研究， 发展实验和分析技能，以及书面和口头陈述技能，为准备工作做好准备 以及论文作品的出版。此外，学生还参与了督导教学体验。这个 学生还参加特定于项目的活动，包括项目务虚会、项目研讨会、 专门的正在进行的研究讲座，以及项目研讨会系列。这些活动为学生提供了 有针对性的指导和职业发展机会，并将帮助他们建立一个专业的网络 在他们的职业生涯中可以借鉴的同行和资深同事。请求支持5年 每年7名博士生。学员非常成功地完成了他们的博士论文工作，发表了 他们在影响很大的期刊上的工作，绝大多数人在离开 程序。

Project Summary/Abstract Continuing support is requested for years 41-46 of the Yale Predoctoral Training Program in Human Genetics and Genomics. The program constitutes 44 trainers, the majority of whom are primary or secondary appointees in the Department of Genetics at the School of Medicine. 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 proposed training program is focused on the use of genetic, genomic and computational approaches to understand human biology and disease. Training encompasses three core domains: 1) The genetics of human health and disease, encompassing disease gene discovery and the interpretation of human genetic variation; 2) Computational approaches to obtain biological insights from complex genomic datasets, both in human and model systems; and 3) Experimental studies in model organisms to understand how human genetic variation influences human biology and disease. Training faculty include investigators who are world leaders in each of these domains. This integrated training environment provides trainees with broad exposure to genetics, genomics and computational biology, and a rich training environment that prepares them for careers in science. Students admitted into the program have strong scientific backgrounds and research experience with high academic achievement. First year students are supported by Yale. Students are then 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 focused on genetics, genomics and data analysis, as well as 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, and skills in written and oral presentation, leading to preparation and publication of the thesis work. In addition, students engage in supervised teaching experiences. The students also participate in Program-specific activities, including a Program Retreat, a Program Symposium, dedicated Research-in-Progress talks, and a Program Seminar Series. These activities provide students with targeted mentoring and career development opportunities and will help them develop a professional network of peers and senior colleagues that they can draw upon throughout their careers. Support is requested for 5 years for 7 Ph.D. students per year. Trainees are highly successful in completing their Ph.D. thesis work, publishing their work in high-impact journals, and the vast majority continue to contribute to science after leaving the program.