Training Program in Human Disease Genetics

描述（由申请人提供）：尽管人类基因组计划使我们对人类遗传学的理解取得了前所未有的进步，但美国遗传学专业人员的缺乏意味着我们将这些信息转化为人类健康的能力将受到限制。人类疾病遗传学培训计划将通过提供对现代人类遗传学研究重要的专业知识的广泛接触，培养新一代的遗传学专业人员，使他们能够胜任这项任务。该项目是为埃默里大学医学院人类遗传学系的博士后和博士后培训生设计的，并将利用该系卓越的研究骨干和临床教师。参与的教师的兴趣范围从人类遗传学的统计方法，到高通量基因组重测序，到动物模型，包括非人类灵长类动物，到研究人类遗传疾病，最后到遗传流行病学。这个多学科的方法来解决同样的问题——基因变异是如何引起疾病的？-将为受训者提供关于人类疾病遗传学研究的广阔视野，并将他们置于人类遗传变异研究的前沿。除了教学培训、科学交流指导和深入参与研究项目外，受训者还将有机会与该系的医学遗传学团队密切合作，探索其研究在临床基因检测和遗传疾病治疗方面的转化应用。完成课程后，学员将成为从事人类遗传学研究或医学遗传诊断和测试实验室工作的有竞争力的候选人。由于人类基因组计划收集的人类遗传变异数据的速度超过了我们理解其含义的能力，这些学员将处于人类疾病遗传学研究的前沿。

DESCRIPTION (provided by applicant): Although the Human Genome Project has led to unprecedented advances in our understanding of human genetics, the dearth of genetics professionals in the United States means that we will be limited in our ability to translate this information to human health. The Training Program in Human Disease Genetics will produce a new generation of genetics professionals who are up to this task by providing a broad exposure to the expertise that is important for modern human genetics research. The program is designed for pre- and postdoctoral trainees in the Department of Human Genetics at Emory University School of Medicine, and will take advantage of the remarkable cadre of research and clinical faculty in the department. The interests of the participating faculty range from statistical methodologies in human genetics, to high-throughput genomic resequencing, to animal models, including nonhuman primates, to studying human genetic disease, and finally to genetic epidemiology. This multidisciplinary approach to the same problem - how does genetic variation cause disease?- will provide trainees with a broad view of research in human disease genetics and will place them at the forefront of research on human genetic variation. In addition to didactic training, instruction in scientific communication, and deep participation in a research project, the trainees will also have the opportunity to explore the translational applications of their research - both in terms of clinical genetic testing as well as treatment for genetic disease - as they work closely with the Medical Genetics team in the department. Upon completion of the program, the trainees will be competitive candidates for research careers in human genetics or for careers in medical genetic diagnostic and testing laboratories. As the data on human genetic variation from the Human Genome Project are being collected at a rate that exceeds our ability to understand its meaning, these trainees will be at the leading edge of research in human disease genetics. RELEVANCE: Over the past several years, there has been a tremendous explosion in our ability to detect human genetic variation of many types. However, we do not fully understand the significance of this variation. It is crucial that we train human geneticists who can take a multi-pronged approach to studying human genetic variation and that they consistently keep in focus the translational applications of their work.