GENETIC VARIATION AND BIRTH DEFECTS AND PREMATURE INFANTS

点击翻译按钮获取中文摘要

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.