Iowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureS

爱荷华州 CBDRP：评估妊娠暴露的出生缺陷研究

• 批准号: 8610029
• 负责人: Paul A Romitti
• 金额: $ 35万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-09-01 至 2018-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8610029
• 关键词: Iowa; CBDRP; Birth; Defects; Study

DESCRIPTION (provided by applicant): In the U.S., major birth defects impact the morbidity and mortality of tens of thousands of children annually. An environmental exposure (broadly defined) or causal gene variant is estimated to explain only about one-third of all major defects that occur. Since 1996, the Iowa Center for Birth Defects Research and Prevention (CBDRP) has played a leadership role in surveillance and research of major birth defects. Our partnership with the Iowa Registry for Congenital and Inherited Disorders provides timely and comprehensive active surveillance of each in-state delivery. Our partnership with the Iowa Department of Public Health provides outreach to families in all 99 Iowa counties. These partnerships have also allowed us to successfully enroll mothers in the National Birth Defects Prevention Study (NBDPS) and related studies to collect environmental exposure and biological data. Using these data, we have made substantial contributions to birth defects epidemiology, ranging from methods development to identification of gene-environmental interaction effects. This work has provided critical insights into the etiology of several major birth defects and has been disseminated in high-impact journals. We propose to expand the work of the Iowa CBDRP through successful participation in the Birth Defects Study To Evaluate Pregnancy Exposures (BD-STEPS). Our overall goal is to identify modifiable maternal exposures in early pregnancy that may increase the risk for having a pregnancy affected by certain major, structural birth defects. We will conduct comprehensive and timely data collection and reporting for the BD-STEPS using our established and experienced surveillance and research infrastructure. We will also extend interdisciplinary collaborations to national and international scientists to increase dissemination of NBDPS and BD-STEPS findings in high-impact, peer-reviewed journals. Our proposed research activities will use a "scaffold" approach for risk factor identification, by simultaneously examining environmental exposures and gene variants from "discovery" to "confirmation" to "interaction." In particular, we will continue our high-impact etiological studie of orofacial clefts and craniosynostosis, and expand them to additional craniofacial and musculoskeletal defects. NBDPS and BD-STEPS data, along with those from independent populations provided by our collaborators, will offer rich resources for analyses of environmental exposures, genes, and gene-environmental interaction effects. Additionally, we will continue our leadership role and expand our training program to develop junior investigators in birth defects research. Along with pre-doctoral students, we will train clinical and research post- doctoral scholars in interdisciplinary team science for birth defects research. This research will encompass methodological, etiological, and translational studies. With our scientific expertise and highly experienced infrastructure, we are well-positioned to successfully complete our proposed research and training. Research findings generated will be used for family education, improvements in treatment, and application of prevention strategies and training activities will contribute to the next generation of birth defect researchers.

描述（由申请人提供）：在美国，主要的出生缺陷会影响每年成千上万儿童的发病率和死亡率。估计环境暴露（广泛定义）或因果基因变体仅解释发生的所有主要缺陷的三分之一。自1996年以来，爱荷华州的先天缺陷研究与预防中心（CBDRP）在监视和研究重大出生缺陷方面发挥了领导作用。我们与爱荷华州先天性和遗传疾病注册中心的合作伙伴关系及时，全面地积极监视每种州内交付。我们与爱荷华州公共卫生部的合作伙伴关系为爱荷华州所有99个县的家庭提供宣传。这些伙伴关系还使我们能够成功地让母亲参加国家先生缺陷预防研究（NBDPS）和相关研究，以收集环境暴露和生物学数据。使用这些数据，我们为出生缺陷的流行病学做出了重大贡献，从方法发展到鉴定基因环境相互作用效应。这项工作为几种主要先天缺陷的病因提供了重要的见解，并已在高影响力期刊中传播。我们建议通过成功参与先天缺陷研究来评估怀孕暴露（BD步骤），扩大爱荷华州CBDRP的工作。我们的总体目标是确定怀孕早期可改变的孕产妇暴露，这可能会增加患有某些主要的结构性先天缺陷影响怀孕的风险。我们将使用我们已建立和经验丰富的监视和研究基础设施为BD步骤进行全面，及时的数据收集和报告。我们还将将跨学科的合作扩展到国家和国际科学家，以增加对高度影响，同行评审的期刊的NBDP和BD步骤发现的传播。我们提出的研究活动将通过同时检查从“发现”到“确认”到“相互作用”的环境暴露和基因变异，将使用“脚手架”方法来识别风险因素。特别是，我们将继续我们对口面裂缝和颅内突变病的高影响力研究，并将其扩展到其他颅面和肌肉骨骼缺陷。 NBDP和BD-Steps数据以及我们合作者提供的独立人群的数据将为环境暴露，基因和基因 - 环境相互作用效应提供丰富的资源。此外，我们将继续我们的领导角色，并扩大我们的培训计划，以培养初级研究人员的出生缺陷研究。我们将与博士前的学生一起培训跨学科团队科学的临床和研究博士学位学者，以进行先生缺陷研究。这项研究将涵盖方法论，病因和翻译研究。凭借我们的科学专业知识和经验丰富的基础架构，我们有很好的位置，可以成功完成拟议的研究和培训。产生的研究结果将用于家庭教育，治疗的改善以及预防策略和培训活动的应用，将有助于下一代出生缺陷研究人员。