Automated Storage and Retrieval of Biological Systems

描述（由申请人提供）：高维资源的创建，如人类和其他基因组序列及其变体，正在推动基础科学、临床科学和转化科学的新机遇。实现个性化医疗的愿景——其中的治疗是预测性的、个性化的、预防性的和参与性的——将代表着这些资源在改善人类健康方面的成功实施。范德比尔特大学医学中心（VUMC）在实现这一愿景所需的基础和临床药理学以及遗传学等转化科学领域拥有国际公认的优势，因此，目前的VUMC研究战略计划将个性化健康和医疗保健确定为未来十年投资的优先领域。实现个性化医疗愿景的关键中间步骤是开展遗传变异与一系列人类表型的关联研究，从疾病易感性到有益的药物反应，再到常见和罕见的药物不良反应。这样的研究需要生成大型数据库，其中包括与DNA样本相关的详细的人类表型。在VUMC，管理多用户、昂贵的关键任务功能，如DNA样本处理，是在机构核心资源方法下操作的；DNA资源核心允许广泛的社区用户高质量的存储和快速访问适当格式化的样本集。自1997年成立以来，Core已经处理了90,000个样本，包括由该仪器的主要用户在当前NIH支持下生成的多个大型样本集。此外，VUMC的DNA收集规模现在变化非常迅速：2007年2月，我们启动了范德比尔特DNA数据库，现在每周积累900个样本。到2008年5月，收集的样本将接近5万个，到2011年初，将包含20万个样本。该数据库在设计、规模和灵活性上都是独一无二的，将成为医学中心跨学科基因型-表型关联的有利资源。迄今为止，该项目由机构承付的资金为340万美元。成功使用如此大的DNA集合来推动台架和床边之间的翻译，关键需要一种样品处理机制，以确保及时生成用于分析的样品集以及数据和样品的完整性。因此，本提案要求为购买复合存储系统提供资金，该系统包括用于样品存储、排列、交付、脱帽和堆叠的模块和软件。这代表了一种能够进行尖端转化科学的工具。公共卫生相关性：人类基因组测序使科学能够解决DNA序列变异决定重要人类特征的方式，如疾病易感性或对药物的不同反应。这项研究的一个重要步骤是积累大量的DNA样本，以检测和验证遗传变异与人类特征之间的关系。然而，在研究中使用这些集合是不可能的，除非可以部署健壮的系统来获取、存储和交付选定的样本。因此，本提案要求高端仪器来实现这些目标，从而开启个性化医疗的新时代。

DESCRIPTION (provided by applicant): The creation of high-dimensional resources, such as human and other genome sequences and their variants, is propelling new opportunities for basic, clinical, and translational science. Realization of the vision of Personalized Medicine - in which therapies are predictive, personalized, preventive, and participatory - would represent the successful implementation of these resources to improve human health. Vanderbilt University Medical Center (VUMC) has internationally-recognized strengths in areas of translational science, such as basic and clinical pharmacology and genetics, required to accomplish this vision and accordingly the current VUMC research strategic plan identifies Personalized Health and Healthcare as a priority area for investment in the upcoming decade. A key intermediate step to realizing the vision of Personalized Medicine is the conduct of studies associating genetic variants with a range of human phenotypes, from disease susceptibility to beneficial drug responses to common and rare adverse drug effects. Such studies require generation of large databases that include detailed human phenotypes associated with DNA samples. At VUMC, management of multi-user, expensive, and mission-critical functions such as DNA sample handling, is operated under a institutional Core Resource approach; the DNA Resource Core allows a wide community of users high quality storage and rapid access to appropriately formatted sample sets. The Core has handled 90,000 samples since its inception in 1997, including multiple large sample sets generated with current NIH support by major users of the proposed instrument. Moreover, the scale of DNA collections at VUMC is now changing very rapidly: in February 2007, we launched the Vanderbilt DNA databank and it is now accruing 900 samples/week. By May 2008 the collection will approach 50,000 samples, and by early 2011, it will contain 200,000 samples. The databank is unique in its design, scale, and flexibility, and will be an enabling resource for genotype-phenotype associations across the disciplines in the medical center. The project has been funded to date by an institutional commitment of $3.4 million. A critical need in successful use of such large DNA collections to propel translation between the bench and the bedside is a mechanism for sample handling that ensures both timely generation of sample sets for analysis as well as data and sample integrity. Accordingly, this proposal requests funding for the purchase of a compound Storage System, that includes modules and software for sample storage, arraying, delivery, decapping, and stacking. This represents an enabling instrument for the conduct of cutting edge translational science. PUBLIC HEALTH RELEVANCE: The sequencing of the human genome is enabling science to address the way in which variation in DNA sequence determines important human traits, such as disease susceptibility or variable response to drugs. An important step in this research is accumulation of extremely large collections of DNA samples to detect and validate relationships between genetic variants and human traits. Using these collections in research, however, is not possible unless robust systems to acquire, store, and deliver selected samples can be deployed. Accordingly, this proposal requests a high end instrument to accomplish these goals, and to thereby enable a new era of Personalized Medicine.