The North Carolina Center for Birth Defects Research and Prevention

描述(申请人提供)：在美国，出生缺陷仍然是导致婴儿死亡和儿童残疾的主要原因。大多数出生缺陷的原因仍不清楚。这项提案的总体目标是继续北卡罗来纳州出生缺陷研究和预防中心(NCCBDRP)的活动。NCCBDRP进行的研究旨在了解出生缺陷的环境和遗传原因。NCCBDRP监督出生缺陷监测，并参与国家出生缺陷预防研究(NBDPS)，这是一项关于出生缺陷风险因素的全国性病例对照研究。NCCBDRP实施NBDPS方案的总体目标是识别和访谈北卡罗来纳州33个县研究区域内300名出生缺陷病例和100名对照的母亲，并收集母亲、父亲和孩子的口腔细胞样本进行基因分析。NCCBDRP将使用池化的NBDPS数据和 DNA样本，并与其他NBDPS中心合作，建议调查出生缺陷病因中的职业、环境、生活方式和遗传因素。NCCBDRP还建议使用流行病学和统计学方法来评估访谈数据和研究设计的质量。将进行试点研究，以扩大和改进现有的研究设计和方法。NCCBDRP虽然在2003年才加入NBDPS，但它已经建立了开发和实施高质量的病例确定和数据收集系统的历史，以及显示出合作研究能力的历史。NC中心通过其对关键研究组成部分的领导和投入，对NBDPS的总体成功产生了积极影响。

DESCRIPTION (provided by applicant): Birth defects continue to be a leading cause of infant mortality and childhood disability in the United States. The cause of most birth defects remains unknown. This overall objective of this proposal is to continue the activities of North Carolina Center for Birth Defects Research and Prevention (NCCBDRP). The NCCBDRP conducts research aimed at understanding the environmental and genetic causes of birth defects. The NCCBDRP oversees birth defects surveillance and participates in the National Birth Defects Prevention Study (NBDPS), a national case-control study of risk factors for birth defects. The overall goal of the NCCBDRP implementation of the NBDPS protocol is to identify and interview the mothers of 300 birth defects cases and 100 controls in our 33 county study area in North Carolina and collect buccal cell samples from the mother, father, and child for genetic analysis. The NCCBDRP will use pooled NBDPS data and DNA samples and in collaboration with other NBDPS centers proposes to investigate occupational, environmental, lifestyle and genetic factors in the etiology of birth defects. The NCCBDRP also proposes to use epidemiologic and statistical methods to evaluate the quality of the interview data and study design. Pilot studies will be conducted to expand and improve existing study design and methods. Although the NCCBDRP joined the NBDPS in only 2003, it has established a history of developing and implementing high quality case ascertainment and data collection systems, and a history of demonstrated collaborative research capacity. The NC Center has positively influenced the overall success of the NBDPS through its leadership and input on key study components.