Genetics and Genomics of Human Disease

项目总结/摘要 继续支持是要求在人类遗传学耶鲁大学博士前培训计划的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中级任命人员 在医学院遗传学系。在上一个资助期内， 已被录取在分子细胞生物学，遗传学和发展轨道（MCGD）在生物和 耶鲁大学的生物医学拟议的培训计划的重点是使用遗传，基因组和 通过计算方法来理解人类生物学和疾病。培训包括三个核心 领域：1）人类健康和疾病的遗传学，包括疾病基因的发现和 人类遗传变异的解释; 2）计算方法，以获得生物学的见解， 复杂的基因组数据集，在人类和模型系统中;和3）在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。培训教师包括 这些领域的世界领导者。这种综合培训环境提供了 学员广泛接触遗传学，基因组学和计算生物学，以及丰富的培训环境 为他们的科学生涯做好准备。被录取的学生有很强的科学背景 具有较高的学术成就和研究经验。一年级学生由耶鲁大学资助。学生 然后在第二年和第三年获得培训补助金，此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以遗传学、基因组学和数据为重点的正式课程工作 分析，以及研究轮换导致论文顾问和实验室的选择。在第二 一年，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建议。随后的几年致力于论文研究， 发展实验和分析技能，以及书面和口头陈述的技能，从而为准备 并发表论文。此外，学生参与监督教学经验。的 学生还参加特定于计划的活动，包括计划务虚会，计划研讨会， 专门的研究进展会谈，和一个程序研讨会系列。这些活动为学生提供 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网络， 他们可以在整个职业生涯中借鉴的同行和资深同事。要求提供5年的支助 7 PhD学生每年。学员在完成博士学位方面非常成功。论文工作，出版 他们在高影响力期刊上的工作，绝大多数人在离开后继续为科学做出贡献。 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.