Automated DNA Extraction for Small Volume Samples Enabling Pediatric Biobanking

描述（由申请人提供）：这是一个购买专业仪器的请求，以扩大对范德比尔特DNA数据库BioVU样本的采集，使其进入儿科人群。改善儿童健康的挑战围绕着我们——区域、国家和全球。每年有1 100万儿童在5岁之前死亡，其中400万儿童在出生后的第一个月内死亡。长期残疾影响了无数人的生活。个性化医学是一种基于个人基因组成、环境暴露、行为和治疗选择的知识来优化人类健康的机制，在整个生命周期中预防、预测或干预疾病并促进后代福祉方面具有无与伦比的前景。范德比尔特大学医学中心（VUMC）已经接受了个性化医疗的概念，并将利用其在遗传学、生物信息学、药理学、医学、儿科、产科、神经病学和相关临床学科方面的国际公认的基础和临床研究专业知识，将这一梦想付诸实践。VUMC已经建立了一个创新的平台，以促进医学研究和实施个性化医疗，BioVU。BioVU是一个DNA生物库，它与获得样本的个人的去识别电子医疗记录（EMR）相关联。该资源目前每周积累约500个成人样本，截至2009年2月包含超过50,000个样本。到2011年初，该系列将超过10万件样品。EMR中的信息已被系统地提取和去识别，形成合成衍生物（SD）数据库。SD纳入了在VUMC护理的患者的孕期、围产期、婴儿期、儿童期和成年期的健康信息，包括那些只在范德比尔特儿童医院就诊的患者。获得与SD相关的儿童DNA样本的能力对于改善儿童疾病的治疗效果至关重要，就像改善那些困扰成年人的疾病一样。将BioVU扩展到儿科生物银行需要一种小体积DNA提取机制，以确保及时生成用于分析的样品集以及样品的完整性。因此，本提案要求为购买QIAsymphony SP提供资金，这是一种紧凑的集成系统，包括用于DNA样品制备和定量的模块和软件。这代表了一种能够进行尖端转化科学的工具。

DESCRIPTION (provided by applicant): This is a request for the purchase of specialized instrumentation to expand acquisition of samples for BioVU, the Vanderbilt DNA databank, into the pediatric population. The challenges to improve child health surround us - regionally, nationally, and globally. Eleven million children die each year before 5 years of age, with 4 million of these deaths occurring within the first month of life. Long-term disabilities compromise the lives of countless others. Personalized Medicine, a mechanism to optimize human health based upon knowledge of an individual's genetic composition, environmental exposures, behaviors, and therapeutic options, holds unparalleled promise to prevent, anticipate, or intervene in, disease throughout the lifespan and promote the well-being of future generations. Vanderbilt University Medical Center (VUMC) has embraced the concept of Personalized Medicine, and will utilize its internationally recognized basic and clinical research expertise in genetics, bioinformatics, pharmacology, medicine, pediatrics, obstetrics, neurology and related clinical disciplines, to bring this dream into practice. VUMC has established an innovative platform to facilitate medical research, and the implementation of Personalized Medicine, BioVU. BioVU is a DNA biobank that is linked to the de-identified electronic medical record (EMR) of the individual from which the sample was obtained. The resource is currently accruing ~500 adult samples/week, and as of February 2009 contains more than 50,000 samples. By early 2011, the collection will exceed 100,000 samples. Information from the EMR has been systematically extracted and de- identified to form the Synthetic Derivative (SD) database. The SD incorporates health information from pregnancy, the perinatal period, infancy, childhood, and adulthood on patients cared for at VUMC, including those only seen at Vanderbilt Children's Hospital. The ability to acquire pediatric DNA samples linked to the SD will be essential to afford the same opportunities to improve outcomes in pediatric disorders as in those afflicting adults. Expansion of BioVU to incorporate pediatric biobanking requires a mechanism for small volume DNA extraction that ensures both timely generation of sample sets for analysis as well as sample integrity. Accordingly, this proposal requests funding for the purchase of a QIAsymphony SP, a compact integrated system that includes modules and software for DNA sample preparation and quantification. This represents an enabling instrument for the conduct of cutting edge translational science.