Sequenom MassArray System

描述（由申请人提供）：有前所未有的机会利用人类和小鼠基因组计划以及HapMap项目中出现的信息，用于评估个体对常见疾病（如癌症、糖尿病、肥胖或心血管疾病）的易感性。确定处于危险中的个人将对预防和治疗这些疾病产生重大影响，并将对保健方法产生根本影响。目前，尽管人们普遍认为“个性化医疗”是NIH的主要目标，但对于实现这一目标所应使用的方法和途径还没有达成共识。UCSF是美国最重要的医疗中心之一，拥有庞大的患者群体和治疗人类疾病的丰富经验。UCSF在人类疾病的小鼠模型的开发方面也有深入的经验，特别是癌症，心血管和免疫缺陷。因此，我们有一个独特的机会来利用患者和组织资源，以及整个校园可用的小鼠模型，通过对适当患者和对照的DNA样本进行大规模的全基因组和靶向基因分型研究。本提案用于购买Sequenom MassArray基因分型系统，用于分析患者和对照组的DNA样本。尽管最近很多注意力集中在高通量全基因组扫描的方法上，但主要需要允许特定候选基因和SNP的低-中等通量分析的靶向方法。虽然Affytek和Illumina系统非常适合于同时分析大量SNP，但Sequenom系统最适合于可以在大量患者样本上快速分型的低-中等SNP数量。目前，校园里还没有这种具有成本效益的单核苷酸多态性基因分型服务。加州大学旧金山分校正在计划或已经在进行的项目包括努力确定一系列常见疾病的遗传基础：糖尿病，自身免疫，多发性硬化症，肥胖和癌症。本提案中概述的主要项目与癌症有关，建议将设备安置在癌症中心内。然而，Sequenom MassArray将成为新成立的综合基因组核心的一部分，并将提供给UCSF及其附属机构的所有参与机构和部门。相关性联邦政府通过NIH/NCI资助的倡议，在人类疾病的遗传学方面进行了重大投资。人类和小鼠基因组计划已经花费了数十亿美元，但将这些信息转化为患者的实际利益仍处于起步阶段。这些项目将利用UCSF的大量患者和组织资源，试图将疾病易感性与宿主的潜在遗传学联系起来，从而符合NIH的总体战略目标。

DESCRIPTION (provided by applicant): There are unprecedented opportunities to exploit the information emerging from the Human and Mouse Genome Projects, as well as the HapMap project, for assessment of individual susceptibility to common diseases such as cancer, diabetes, obesity, or cardiovascular disorders. Identification of individuals at risk will have major implications for prevention as well as treatment of these conditions, and will have a fundamental impact on approaches to health care. At present, in spite of the general agreement that "personalized medicine" is a major goal of the NIH, there is as yet no consensus regarding the methods and approaches that should be used to achieve this goal. UCSF is one of the foremost medical centers in the US, with an extremely large patient population and vast experience in the treatment of human disease. UCSF also has in depth experience in the development of mouse models of human disease, in particular cancer, cardiovascular and immunodeficiency. We therefore have a unique opportunity to exploit the patient and tissue resources, as well as the mouse models available across the campus by carrying out large scale genome-wide and targeted genotyping studies of DNA samples from appropriate patients and controls. This proposal is for the purchase of the Sequenom MassArray genotyping System for the analysis of DNA samples from patients and controls. Although much attention has recently been focused on approaches to high throughput whole genome scanning, there is a major requirement for a targeted approach that allows low-medium throughput analysis of specific candidate genes and SNPs. While the Affymetrix and Illumina systems are well suited to simultaneous analysis of large numbers of SNPs, the Sequenom system is most appropriate for low-intermediate SNP numbers that can be typed rapidly on large numbers of patient samples. At the moment, there is no cost -effective SNP genotyping service of this kind available on the campus. The projects that are planned or already in progress at UCSF include efforts to determine the genetic basis of a range of common diseases: diabetes, autoimmunity, multiple sclerosis, obesity, and cancer. The main projects outlined in this proposal are cancer related, and it is proposed to house the equipment within the Cancer Center. However, the Sequenom MassArray will be part of the newly formed Consolidated Genome Core and will be available to all participating institutions and departments at UCSF and its affiliated institutions. Relevance The Federal Government, through NIH/NCI funded initiatives, has made a major investment in the genetics of human disease. The human and mouse genome projects have cost billions of dollars, but the translation of this information into tangible benefits for patients is still in its infancy. These projects will exploit the vast patient and tissue resources at UCSF in an attempt to relate disease susceptibility to the underlying genetics of the host, and is thus fits with the overall strategic aims of the NIH.