Training Program in Human Disease Genetics

描述(申请人提供)：尽管人类基因组计划在我们对人类遗传学的理解方面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受到将这些信息转化为人类健康的能力的限制。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，培养出能够胜任这项任务的新一代遗传学专业人员。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实习生设计的，将利用该系出色的研究和临床教师队伍。参与的教员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，到研究人类遗传病，最后到遗传流行病学。这种针对同一问题的多学科方法--基因变异如何导致疾病？--将为受训者提供对人类疾病遗传学研究的广泛视角，并将使他们处于人类基因变异研究的前沿。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的研究在临床基因测试和遗传病治疗方面的翻译应用，因为他们与系内的医学遗传学团队密切合作。完成该计划后，受训人员将成为人类遗传学研究职业或医学基因诊断和检测实验室职业的有竞争力的候选人。由于人类基因组计划收集人类基因变异数据的速度超出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，我们检测多种类型的人类基因变异的能力出现了巨大的爆炸性增长。然而，我们并不完全理解这种变化的意义。至关重要的是，我们要培养能够多管齐下研究人类基因变异的人类遗传学家，并始终关注他们工作中的翻译应用。

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.