Training Program in Human Disease Genetics

人类疾病遗传学培训计划

• 批准号: 8101313
• 负责人: Stephen T. Warren
• 金额: $ 27.85万
• 依托单位: EMORY UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-07-01 至 2014-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8101313
• 关键词: Genetic; Training Programs; human disease

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.

描述（由申请人提供）：尽管人类基因组项目已经导致了我们对人类遗传学的理解的前所未有的进步，但美国的遗传学专业人员的缺乏意味着我们将限制将这些信息转化为人类健康的能力。 人类疾病遗传学的培训计划将产生新一代的遗传学专业人员，这些专业人员通过对现代人类遗传学研究很重要的专业知识提供广泛的专业知识来履行这项任务。 该计划是为埃默里大学医学院人类遗传学系的前和博士后学员而设计的，将利用该系的研究和临床教师的出色干部。 参与教师的利益范围从人类遗传学的统计学方法到高通量基因组重新统计，再到包括非人类灵长类动物在内的动物模型，再到研究人类遗传疾病，再到遗传流行病学。 这种针对同一问题的多学科方法 - 遗传变异如何引起疾病？ - 将为受训者提供对人类疾病遗传学研究的广泛研究，并将其置于人类遗传变异研究的最前沿。 除了教学培训，科学沟通的教学以及对研究项目的深入参与外，学员还将有机会探索其研究的转化应用 - 无论是在临床基因测试和遗传疾病的治疗方面都与医疗遗传学团队紧密合作。 该计划完成后，学员将成为人类遗传学研究职业或医疗遗传诊断和测试实验室职业的竞争候选人。 随着人类基因组项目的人类遗传变异的数据被以超过我们理解其含义的能力的速度收集，这些受训者将处于人类疾病遗传学研究的前沿。 相关性：在过去的几年中，我们检测许多类型的人类遗传变异的能力发生了巨大爆炸。 但是，我们不完全理解这种变化的重要性。 至关重要的是，我们培训可以采用多方面方法来研究人类遗传变异的人类遗传学家，并且他们始终如一地将其工作的转化应用集中在其工作中。