Iowa CBDRP: Component A BD-STEPS II Core

爱荷华州 CBDRP：组件 A BD-STEPS II 核心

基本信息

批准号：
10421036
负责人：
KRISTIN CONWAY
金额：
$ 85万
依托单位：
UNIVERSITY OF IOWA
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-09-01 至 2023-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10421036
关键词：
Iowa CBDRP Component BD STEPS

项目摘要

PROJECT SUMMARY In the US, major birth defects affect a delivery every 4½ minutes and the morbidity and mortality of tens of thousands of children annually. An environmental (i.e. non-inherited) exposure or causal gene variant is estimated to explain about one-third of all 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 partnerships with the Iowa Department of Public Health and Iowa Registry for Congenital and Inherited Disorders provide comprehensive and timely surveillance of deliveries to Iowa residents. With these partnerships, we successfully enrolled mothers in the National Birth Defects Prevention Study (NBDPS) and Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) I. Using exposure data and biologic specimens collected, we made substantial contributions to birth defects epidemiology, ranging from methods development to identifying gene-environment interaction effects. Our work has provided critical insights into birth defect etiology and been disseminated in high-impact journals. We propose to expand the work of the Iowa CBDRP through successful participation in the BD-STEPS II. Our overall goal is to identify modifiable maternal exposures in early pregnancy, which may increase the risk for having a pregnancy affected with a major birth defect. We will expertly conduct comprehensive and timely data collection and reporting for the BD- STEPS II using our highly experienced surveillance and research infrastructures. Our proposed research approach is not only consistent with the BD-STEPS II required activities, but expands and innovates the conceived study design (RFA-DD-18-001). We propose to address critical barriers identified in a recent review of the NBDPS to investigate modifiable risk factors for major birth defects. To accomplish this, we will expand the traditional epidemiology approach (used in the NBDPS and BD-STEPS) by integrating a multiomics systems epidemiology approach. Our systems approach is novel in its application to NBDPS and BD-STEPS data. It will use state of the art genomic analysis to lead to improved characterization of the case phenome and improved delineation of pathways that influence birth defect development via the exposome. The expertise of our key personnel and collaborating investigators, along with access to rich exposure and biologic data from independent populations, provides us with unique resources among all CBDRPs, allowing us to successfully implement our systems approach. Additionally, we will continue our leadership role and expand our training of a future generation of birth defect researchers. Along with continuing to train pre-doctoral and postdoctoral scholars, we will now include bachelor’s scholars. Our key personnel, investigators, and scholars will continue our high productivity in disseminating findings from NBDPS and BD-STEPS through peer-reviewed publications. Research findings generated will provide critical insights into modifiable risk factors for major birth defects and be used for family education, treatment improvements, and application of prevention strategies.

项目摘要在美国，主要的先天缺陷会影响每4.5分钟的交货，以及数十分钟的发病率和死亡率每年成千上万的孩子。环境（即非传染性）接触或因果基因变体是估计要解释发生的所有缺陷中的三分之一。自1996年以来，爱荷华州出生缺陷中心研究与预防（CBDRP）在监视和研究中发挥了领导作用缺陷。我们与爱荷华州公共卫生部和爱荷华州先天性注册处的合作伙伴关系继承的疾病为爱荷华州居民提供了全面，及时的调查。与这些合作伙伴关系，我们成功地让母亲参加了国家先生缺陷预防研究（NBDPS）和出生缺陷研究以评估怀孕暴露（BD步骤）I。使用暴露数据和生物学收集的标本，我们为流行病学做出了重大贡献，从方法范围开发确定基因环境相互作用的效果。我们的工作为生日缺陷病因，并在高影响力期刊中传播。我们建议扩大爱荷华州CBDRP通过成功参与BD-Steps II。我们的总体目标是确定可修改怀孕初期的孕产妇暴露，这可能会增加患怀孕影响的风险主要的先天缺陷。我们将专业地为BD-进行全面，及时的数据收集和报告第二步使用我们经验丰富的监视和研究基础设施。我们提出的研究方法不仅与BD-Steps II所需的活动一致，而且扩展和创新构想的研究设计（RFA-DD-18-001）。我们建议解决最近一份评论中确定的关键障碍 NBDP调查主要先天缺陷的可修改风险因素。为此，我们将扩展传统的流行病学方法（用于NBDPS和BD步骤），通过整合多组学系统流行病学方法。我们的系统方法在应用于NBDP和BD steps时是新颖的数据。它将使用最先进的基因组分析状态，从而改善案例现象的表征和改善了通过爆炸体影响出生缺陷发育的途径的描述。专家我们的关键人员和合作调查人员，以及从独立人群，为我们提供了所有CBDRP的独特资源，使我们能够成功实施我们的系统方法。此外，我们将继续我们的领导角色并扩大我们的培训未来的出生缺陷研究人员。以及继续训练博士后和博士后学者，我们现在将包括学士学位学者。我们的关键人员，调查人员和学者将继续我们通过同行评审从NBDP和BD步骤传播发现的高生产率出版物。产生的研究发现将为重大出生的可修改风险因素提供关键的见解缺陷，用于家庭教育，治疗改善和预防策略的应用。

项目成果

期刊论文数量（19）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.

患有膀胱外翻的亲子三人组的外显子组测序：26 名儿童的研究结果。

DOI：
10.1002/ajmg.a.62439
发表时间：
2021-10
期刊：
American journal of medical genetics. Part A
影响因子：
0
作者：
Pitsava G;Feldkamp ML;Pankratz N;Lane J;Kay DM;Conway KM;Shaw GM;Reefhuis J;Jenkins MM;Almli LM;Olshan AF;Pangilinan F;Brody LC;Sicko RJ;Hobbs CA;Bamshad M;McGoldrick D;Nickerson DA;Finnell RH;Mullikin J;Romitti PA;Mills JL;University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study
通讯作者：
University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.

DOI：
10.3390/genes13050816
发表时间：
2022-05-03
期刊：
GENES
影响因子：
3.5
作者：
Justice, Cristina M.;Musolf, Anthony M.;Cuellar, Araceli;Lattanzi, Wanda;Simeonov, Emil;Kaneva, Radka;Paschall, Justin;Cunningham, Michael;Wilkie, Andrew O. M.;Wilson, Alexander F.;Romitti, Paul A.;Boyadjiev, Simeon A.
通讯作者：
Boyadjiev, Simeon A.

Pre-pregnancy dietary arsenic consumption among women in the United States.

美国女性孕前膳食砷摄入量。

DOI：
10.1002/bdr2.1634
发表时间：
2020
期刊：
Birth defects research
影响因子：
2.1
作者：
Suhl,Jonathan;Conway,KristinM;Rhoads,Anthony;Langlois,PeterH;Feldkamp,MarciaL;Michalski,Adrian;Romitti,PaulA;NationalBirthDefectsPreventionStudy
通讯作者：
NationalBirthDefectsPreventionStudy

Drinking water disinfection byproducts and risk of orofacial clefts in the National Birth Defects Prevention Study.

国家出生缺陷预防研究中的饮用水消毒副产物和口面部裂风险。

DOI：
10.1002/bdr2.1348
发表时间：
2018
期刊：
Birth defects research
影响因子：
2.1
作者：
Weyer,Peter;Rhoads,Anthony;Suhl,Jonathan;Luben,ThomasJ;Conway,KristinM;Langlois,PeterH;Shen,Dereck;Liang,Dong;Puzhankara,Soman;Anderka,Marlene;Bell,Erin;Feldkamp,MarciaL;Hoyt,AdrienneT;Mosley,Bridget;Reefhuis,Jennita;Rom
通讯作者：
Rom

Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche" [Bone 112 (July 2018) 58-70].

“非综合征性颅缝早闭中的 BBS9 基因：初级纤毛在缝线成骨生态位异常骨化中的作用”的勘误表 [Bone 112 (2018 年 7 月) 58-70]。

DOI：
10.1016/j.bone.2019.02.004
发表时间：
2019
期刊：
Bone
影响因子：
4.1
作者：
Barba,Marta;DiPietro,Lorena;Massimi,Luca;Geloso,MariaConcetta;Frassanito,Paolo;Caldarelli,Massimo;Michetti,Fabrizio;DellaLonga,Stefano;Romitti,PaulA;DiRocco,Concezio;Arcovito,Alessandro;Parolini,Ornella;Tamburrini,Gianpiero;
通讯作者：