Automated DNA Extraction for Small Volume Samples Enabling Pediatric Biobanking

描述(由申请人提供)：这是一份购买专门仪器的申请，目的是将Vanderbilt DNA数据库BioVU的样本采集扩大到儿科人群。改善儿童健康的挑战困扰着我们--无论是在区域、国家还是全球。每年有1100万儿童在5岁之前死亡，其中400万发生在出生后的第一个月内。长期的残疾危及无数其他人的生活。个性化医学是一种基于对个人遗传组成、环境暴露、行为和治疗选择的了解来优化人类健康的机制，它拥有无与伦比的承诺，可以在一生中预防、预测或干预疾病，并促进子孙后代的福祉。范德比尔特大学医学中心(VUMC)已经接受了个性化医学的概念，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，将这一梦想变为现实。VUMC建立了一个创新的平台，以促进医学研究，并实施个性化医学，BioVU。BioVU是一个DNA生物库，与从其获取样本的个人的未识别电子病历(EMR)相关联。该资源目前每周收集约500份成人样本，截至2009年2月，包含50,000多份样本。到2011年初，收集的样本将超过10万个。对电子病历中的信息进行了系统提取和识别，以形成合成衍生品(SD)数据库。SD包含了在VUMC接受护理的患者的怀孕、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看到的患者。获得与SD相关的儿科DNA样本的能力对于提供与那些患有SD的成年人一样的机会改善儿科疾病的结果至关重要。扩大BioVU以纳入儿科生物库需要一种小容量DNA提取机制，确保及时生成用于分析的样本集以及样本完整性。因此，这项提案要求提供资金，用于购买QIAsymony SP，这是一个紧凑的综合系统，包括DNA样本制备和量化的模块和软件。这是开展尖端翻译科学的有利手段。

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.