Developing an Interdisciplinary Research Agenda for Genetics of Birth Defects

制定出生缺陷遗传学跨学科研究议程

• 批准号: 8526145
• 负责人: GARY M SHAW
• 金额: $ 3.6万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-04-01 至 2016-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8526145
• 关键词: Area; Cardiovascular Diseases; Communities; Congenital Abnormality; Data; Discipline; Discipline of obstetrics; Disease; District of Columbia; Educational workshop; Environmental Exposure; Environmental Risk Factor; Epidemiology; Epigenetic Process; Etiology; Family; Foundations; Genetic; Genetic Predisposition to Disease; Genetic Research; Genetic Variation; Genomics; Goals; Human; Infant Mortality; Infection; Interdisciplinary Study; Investigation; Knowledge; Life; Malignant Neoplasms; Medical Economics; Molecular Biology; Online Systems; Outcome; Paper; Parents; Pediatrics; Plant Roots; Psyche structure; Research; Resources; Risk Factors; Role; Scientist; Solutions; Stream; Structure; Technology; Teratology; Toxic Environmental Substances; United States National Institutes of Health; disability; epigenomics; experience; genetic epidemiology; genetic risk factor; genetic variant; lifestyle factors; meetings; member; non-genetic; prospectuses; public health relevance; social

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.

描述（由申请人提供）：人类结构性先天缺陷通常与身体或精神残疾有关，并且是美国婴儿死亡率的主要原因。出生缺陷的医学，经济，社会和家庭影响是巨大的。几十年来，科学界表示，多达75％的先天缺陷具有未知原因，只有一小部分原因可以归因于感染，环境毒素和有限的已知遗传作用。我们对影响大多数人类出生缺陷发生的遗传（和非核）因素的有限了解部分植根于历史上缺乏数据资源和技术限制的基础。我们目前有前所未有的机会来推进关于先天缺陷的基因组研究。但是，利用这种机会的下一步有障碍。障碍中的主要是缺乏协调的跨学科研究议程来研究遗传病因和先天缺陷。在此应用程序中，我们提出了最初的努力，通过举办为期2天的研讨会来解决此类障碍。拟议的研讨会的目的是确定方法并制定可能对发现人类出生缺陷的基因组和表观基因组危险因素产生重大和持续影响的策略。该研讨会的结构是优化科学家之间在五个相关主题领域进行多个点触点正式讨论的科学家之间的富有成效和引人入胜的互动。该会议将从流形学科中组成领先的科学家，包括遗传学，遗传学，流行病学，儿科，妇产科和分子生物学。这次会议的结果将是一份全面的“白皮书”，它将描述讨论的特征，并为可以广泛分发的新研究轨迹提供详细的招股说明书。