Multi-Institutional Training in Genetic/Genomic Approaches to Sleep Disorders

摘要 睡眠和昼夜节律紊乱对公众健康有重大影响。几乎所有方面的睡眠和 昼夜节律是可遗传的，就像常见的睡眠和昼夜节律紊乱一样。因此，这是一个重大机遇。 研究睡眠/昼夜节律和不同睡眠障碍的遗传基础。基因组学方法， 包括开发新的生物标记物，是另一个机会领域。虽然这些主要的科学研究 机会是存在的，但我们没有必要的科学队伍来解决这些问题。要解决这个问题 需要，已经在睡眠和昼夜节律的遗传/基因组学方面建立了一个多机构培训赠款 精神错乱。它需要一个全国性的视角，而不是单一的机构视角。该项目由该大学的教职员工领导。 宾夕法尼亚大学拥有最先进的研究培训基础设施。这些网站 研究员在约翰·霍普金斯大学、密歇根大学和斯坦福大学接受培训。一个 已经招募了多学科、有才华的教职员工来提供培训。这包括处于不同睡眠状态的专家 人类遗传学中的紊乱，基因组方法，包括RNA序列，以及多种模型系统的使用 例如斑马鱼和老鼠。后者允许受训者评估已识别的基因变异的功能作用 在人类研究中。该计划协调了所有受训人员参加的活动。这些工作包括研究工作- 正在进行的讲座、赠款研讨会和关于睡眠和昼夜节律紊乱的遗传学/基因组学的讲座。这个 计划招收了8名优秀的医学博士和博士后实习生，其中4人已提交 职业发展补助金。所有参加该计划的个人都将继续从事生物医学研究 学术环境。

ABSTRACT Sleep and circadian disorders have a major impact on public health. Almost all aspects of sleep and circadian rhythm are heritable as are common sleep and circadian disorders. Thus, there is a major opportunity to study the genetic basis of sleep/circadian rhythm and different sleep disorders. Genomic approaches, including development of novel biomarkers, are another area of opportunity. While these major scientific opportunities are available, we do not have the scientific workforce necessary to address them. To address this need, a multi-institutional training grant has been established in genetic/genomics of sleep and circadian disorders. It takes a national, rather than single institutional, perspective. The program is led by faculty at the University of Pennsylvania, which has the most advanced infrastructure for research training. The sites that fellows train at are Johns Hopkins University, University of Michigan and Stanford University. A multidisciplinary, talented faculty has been recruited to provide training. This includes experts in different sleep disorders, in human genetics, in genomic approaches, including RNA seq, and use of multiple model systems such as zebrafish and mice. The latter allows trainees to evaluate the functional role of gene variants identified in human studies. The program has coordinated events that all trainees attend. These include research work- in-progress talks, a grant workshop and lectures on genetics/genomics of sleep and circadian disorders. The program has recruited 8 outstanding MD and PhD postdoctoral trainees, four of whom have already submitted career development grants. All individuals who have entered the program remain in biomedical research in academic settings.