GENETIC VARIATION AND BIRTH DEFECTS AND PREMATURE INFANTS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 在过去的几年里，遗传变异既更容易识别，也与出生缺陷和受损新生儿的研究更直接相关。 遗传分析技术的力量允许从甚至微小的早产儿及其父母中收集非常小且可接受的DNA，以识别可能在足月和早产儿的出生缺陷，代谢变异和其他疾病中发挥作用的基因中的遗传变异和突变。 与此同时，在理解代谢变异如何决定药物反应，参与发育途径的特定基因突变如何导致出生缺陷，以及新型遗传模型，包括染色体微缺失或重复扩增和印记，在受损新生儿中发挥作用，使利用大量人口成为可能-基于新生儿的收集，以持续的方式为此类研究提供资源。 在该方案中，这些研究人员正在扩大一个已经到位的数据和样本收集系统，用于有特定出生问题的新生儿。 本研究将招募所有有任何形式损害的新生儿，包括与早产相关的问题，足月儿的并发症，如感染或肺动脉高压，以及涵盖整个结构和发育异常范围的出生缺陷。 虽然已经在进行一些研究以利用这些材料，但所收集的材料也将为今后开展研究提供资源和资料库，因为特别是与出生缺陷和新陈代谢有关的新的和更具体的假设已经产生。 将收集和储存材料以供长期使用，并特别注意保密性，患者记录将确保收集的DNA和数据保密。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Genetic variation is both more easily identified and has become more directly relevant to studies of birth defects and compromised newborns in the last several years. The power of genetic analytic techniques allows the collection of very small and acceptable amounts of DNA from even tiny premature newborns and their parents to identify genetic variations and mutations in genes that may play a role in birth defects, metabolic variation, and other diseases of term and premature newborns. In parallel with this, advances in understanding how metabolic variation determines drug response, how mutations in particular genes involved in developmental pathways result in birth defects, and how new types of genetic models, including chromosomal microdeletions or repeat expansions and imprinting, play a role in compromised newborns make it feasible to make use of a large population-based collection of newborn infants to provide resources for such studies in an ongoing way. In this protocol, these investigators are expanding on an already in-place data- and sample-collection system for newborns with specific birth problems. This study will enroll all newborns who have any form of compromise, including problems related to prematurity, complications of term infants such as infection or pulmonary hypertension, and birth defects covering the entire spectrum of structural and developmental anomalies. While some studies are already under way to make use of this material, the materials collected will also provide a resource and bank for carrying out studies in the future as new and more-specific hypotheses related to birth defects and metabolism, in particular, are generated. Materials will be collected and stored for long-term use and special attention to confidentiality and patient records will ensure that the DNA and data collected will remain confidential.