Developing an Interdisciplinary Research Agenda for Genetics of Birth Defects

描述（由申请人提供）：人类结构性出生缺陷通常与身体或精神残疾有关，是美国婴儿死亡的主要原因。出生缺陷的医学、经济、社会和家庭影响是巨大的。几十年来，科学界已经指出，多达75%的出生缺陷有一个未知的原因，只有一小部分的原因可以归因于感染，环境毒素和有限数量的已知遗传效应。我们对影响大多数人类出生缺陷发生的遗传（和非遗传）因素的知识有限，部分原因是历史上缺乏数据资源和技术限制。我们目前有一个前所未有的机会来推进出生缺陷的基因组研究。然而，利用这些机会的下一步存在障碍。主要的障碍是缺乏一个协调的跨学科研究议程，以研究遗传病因学和出生缺陷。在这个应用程序中，我们建议通过为期2天的研讨会来解决这些障碍。拟议的研讨会的目标是确定方法和制定战略，有可能对发现人类出生缺陷的基因组和表观基因组风险因素产生实质性和持续的影响。研讨会的结构是为了优化科学家之间富有成效和参与性的互动，就五个相关的专题领域进行多点对点的正式讨论。会议将汇集来自多个学科的领先科学家，包括畸形学，遗传学，流行病学，儿科学，产科学和分子生物学。这次会议的成果将是一份全面的“白色文件”，它将描述讨论的特点，并为可广泛分发的新的研究轨迹提供详细的计划书。

DESCRIPTION (provided by applicant): Human structural birth defects are often associated with physical or mental disability and are the leading cause of infant mortality in the US. The medical, economic, social, and family implications of birth defects are tremendous. For several decades the scientific community has stated that as many as 75% of birth defects have an unknown cause and only a small percentage of causes can be attributed to infections, environmental toxins, and a limited number of known genetic effects. Our limited knowledge regarding genetic (and nongenetic) factors that impact occurrence of most human birth defects is partly rooted in what has historically been a lack of data resources and limits on technology. We currently have an unprecedented opportunity to advance genomic research of birth defects. However, next steps toward capitalizing on such opportunities have obstacles. Primary among the obstacles is a lack of a coordinated interdisciplinary research agenda for the study of genetic etiologies and birth defects. In this application, we are proposing an initial effort towar solving such obstacles by having a 2-day workshop. The goal of the proposed workshop is to identify approaches and formulate strategies that are likely to have a substantial and sustained impact on discovering genomic and epigenomic risk factors for human birth defects. The workshop has been structured to optimize productive and engaging interactions between scientists with multiple point-counter point formal discussions on five pertinent topical areas. The meeting will assemble leading scientists from manifold disciplines including teratology, genetics, epidemiology, pediatrics, obstetrics, and molecular biology. The outcome of this meeting will be a comprehensive "white paper" that will characterize the discussions and provide a detailed prospectus for new research trajectories that can be broadly distributed.