课程 and Overall 培训 Plan

我们HGG项目的总体目标是教育下一代人类遗传学的领导者. 我们寻求培养独立的科学家,他们对基因变异在人类状况中所扮演的角色充满热情和好奇. 作为人类遗传学家,他们将直接或间接地研究与人类有机体有关的问题. 我们相信, 因此, 从正常的发育和功能以及疾病的本质和反应方面对人类生物学的理解, and the role played by variation therein, is essential preparation for their future. 因此, 我们的课程设定了一个独特的愿景,旨在装备我们的学员剖析人类生物学和疾病中遗传变异的许多不同角色, integrating genetic thinking with a human/clinically oriented focus. 这样做的时候, we place emphasis on developing strong foundational understanding of genetics in human 生物学 and disease; on the application of emerging genomic technologies in dissecting genetic mechanisms; and on biologically informed, 批判性思维, guided by thought leaders across all of human genetics, 医学, 生物学, 数据科学及其他领域. 培训由世界一流的教师提供,他们的兴趣遍及当代基因研究的各个领域, 来自翻译研究, and population-directed genetic disease study to emerging genomic technologies, big data analysis and machine learning.

Scientists looking into microscopes

我们的综合重点使我们的项目在霍普金斯大学校园和全国范围内与众不同,特别吸引那些想要使用最先进的遗传学和基因组学方法来回答与人类遗传疾病相关问题的学生. 我们的课程要求很高,但我们相信,这门课程最能让我们的学生成为人类遗传学的独立研究者.

任务:装备HGG学生剖析基因变异在调节人类表型中的作用. 我们开始培养新一代的科学家和思想领袖,他们了解基因在人类正常发育和生理稳态中的作用,并认识到遗传变异对健康和疾病的贡献. 培训 integrates standard course requirements, electives and independent research. 为此目的, 我们已经开发(最近修订)了一个核心课程,将人类遗传学培训的关键组成部分编织在一起,贯穿前两个学年.

在第一年, 我们的学员学习基础遗传学课程“基因的进化概念”,这是一门混合教学的课程, 提供遗传学经典论文的有力介绍的研讨会和讨论会议, as well as the spectrum of functional variation and modes of inheritance; “Molecular Biology and 基因组学” – a critical introduction to the genomes of prokaryotic and eukaryotic organisms; “细胞结构与动力学” and “途径和调控” which introduce foundational topics in cell 生物学, 生物能学, pathways and metabolism including cellular processes and related homeostatic mechanisms; Rigor and Reproducibility in 研究 (RRR); and “Advanced Topics in Human Genetics'' covering an array of established and emerging fields of genetic research. 也, 在第一年, HGG students take a Computational 训练营, to equip them with fundamental skills in computation and statistics.

In their second year, trainees take two truly innovative courses. 第一个, ”系统, Genes and Mechanisms in Disease,” provides a system-directed training in normal and pathological states, and the genetic mechanisms that underpin disease risk/progression. 本课程旨在将他们的基因训练置于人类生物学和病理学的背景下. 第二个, “Genomic Technologies Applications and Considerations, GTAC“为学员提供必要的概念和实验设计技能,以部署常用的和新兴的基因组实验策略, ranging from next generation sequencing (long and short read) through variant detection, chromatin and transcriptional assays to large scale genome engineering. A statistics course of the student’s choosing must be completed by the end of year 3. The course must be approved by program directors.

完成课程后, 学生还必须参加至少三个研究生水平选修课程,协同他们的研究. Electives may be chosen from all available graduate level courses within JHUSOM.

在第一年, our trainees rotate in up to three laboratories, providing the opportunity to explore different questions, 实验方法, lab dynamics and mentorship styles. 72个HGG项目实验室涵盖了包括DNA调控元件计算研究在内的一系列研究领域, rare metabolic and mitochondrial disease, 心血管病, 视网膜变性, 癌症, 常见复杂表型, employing cutting edge genomic, transcriptomic and machine learning strategies, 还有公共卫生, 流行病学与伦理学, Legal and Social Implications.

学生们还参加了DGM的科学会议,包括每周的期刊俱乐部, research seminars and special guest lecture series (Barton Childs lecture, Victor McKusick lecture) throughout their training. 他们还参与了一系列其他组成部分,以支持他们的专业和个人发展. These include: many opportunities for research communication, peer support systems (peer families), 同侪辅导和辅导, and attendance at workshops on career exploration and degree completion, engaging with visiting seminar speakers, as well as training in the 3Rs, responsible conduct of research, 和道德, diversity equity and inclusion. 此外, they are exposed to the day-to-day machinations of basic and clinical research, grant and manuscript preparation, 编辑过程, 协作关系, 指导, and to perceptions of their science by the public and in the media. 他们与导师和导师建立专业关系,让双方都负起责任. 将这些具有挑战性的基础和临床导向课程与独立的研究实验室轮转和深入的论文研究相结合,使HGG学员能够独特地应对新兴的生物医学挑战.

课程

Figure 3: Timeline for HG Required Courses in Years One and Two. Pink boxes denote HG directed courses. 蓝框表示该项目提供的生物化学、细胞和分子生物学课程. Yellow box denotes a course organized by a joint committee from the DGM (JHUSOM) and the Jackson Lab (Jax; Bar Harbor, ME).

第一年

  • 训练营
  • Human Genetics Core Discussions (intro to preceptors)
  • The Evolving Concept of the Gene
  • Introduction to 研究 Ethics
  • Molecular Biology and 基因组学
  • Rigor and Reproducibility in 研究
  • 细胞结构与动力学
  • 途径和调控
  • Advanced Topics in Human Genetics
  • 实验室旋转x 3
  • 专业发展和职业办公室选项课程:参加2个调查职业和网络(iCAN)演讲者系列活动
  • 桑玛: Short Course in Human and Mammalian Genetics and 基因组学, two week course in July at the Jackson Laboratory in Bar Harbor, Maine

第二年

  • Systems, Genes and Mechanisms of Disease
  • 独立研究
  • Genome Technologies, Applications and Considerations
  • 综合考试
  • 专业发展和职业办公室选项课程:参加2个调查职业和网络(iCAN)演讲者系列活动
  • Dean’s 研究 Integrity Lecture Series (see below)
  • 拨款写作工作坊. Please see the section on this 页面 entitled "NIH F award workshop" for links to the material

第三年 & 除了

  • 独立研究
  • Statistics course -your choice but must be approved and completed by end of year 3
  • Three electives (MD/PhD students must take two electives)
  • Dean's 研究 Integrity Lecture Series
  • 第三年: OPTIONS curriculum: Join one of 5 career communities; attend 6 workshops and complete informational interview assignment
  • 四年级及以上:选项课程:与PDCO员工会面,为您的特定职业目标制定个性化计划