Training Program in Human Disease Genetics

描述（由申请人提供）：虽然人类基因组计划导致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有限。 人类疾病遗传学培训计划将培养新一代的遗传学专业人员，他们通过广泛接触对现代人类遗传学研究至关重要的专业知识来完成这项任务。 该计划是专为前和博士后学员在人类遗传学系埃默里大学医学院，并将利用该部门的研究和临床教师的显着干部的优势。 参与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，包括非人灵长类动物，到研究人类遗传疾病，最后到遗传流行病学。 这种多学科的方法来解决同一个问题-遗传变异如何导致疾病？将为学员提供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，学员还将有机会探索他们研究的转化应用-无论是在临床遗传检测方面还是遗传疾病的治疗-因为他们与部门的医学遗传学团队密切合作。 完成该计划后，学员将成为人类遗传学研究职业或医学遗传诊断和检测实验室职业的竞争力候选人。 由于人类基因组计划收集人类遗传变异数据的速度超过了我们理解其含义的能力，这些受训人员将处于人类疾病遗传学研究的前沿。 相关性：在过去的几年里，我们检测多种类型人类遗传变异的能力有了巨大的增长。 然而，我们并不完全理解这种变化的意义。 至关重要的是，我们培养人类遗传学家，他们可以采取多管齐下的方法来研究人类遗传变异，并且他们始终关注他们工作的翻译应用。

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.