Sequenom MassArray System

描述(由申请者提供)：有前所未有的机会利用人类和老鼠基因组项目以及HapMap项目产生的信息来评估个人对常见疾病的易感性，如癌症、糖尿病、肥胖症或心血管疾病。确定处于危险中的个人将对这些疾病的预防和治疗产生重大影响，并将对卫生保健的方法产生根本性影响。目前，尽管普遍认为“个人化医疗”是美国国立卫生研究院的一个主要目标，但对于实现这一目标应该使用的方法和途径还没有达成共识。加州大学旧金山分校是美国最重要的医疗中心之一，拥有极其庞大的患者群体和丰富的人类疾病治疗经验。加州大学旧金山分校还在开发人类疾病的小鼠模型方面拥有深入的经验，特别是癌症、心血管疾病和免疫缺陷。因此，我们有一个独特的机会来开发患者和组织资源，以及整个校园可用的小鼠模型，方法是对适当的患者和对照的DNA样本进行大规模的全基因组和有针对性的基因分型研究。这项提议是为了购买Sequenom Massarray基因分型系统，用于分析患者和对照的DNA样本。尽管最近很多注意力都集中在高通量全基因组扫描的方法上，但对能够对特定候选基因和SNPs进行中低通量分析的靶向方法有一个主要的要求。Affymetrix和Illumina系统非常适合于同时分析大量SNP，而Sequenom系统最适合于可以在大量患者样本上快速分型的中低SNP数字。目前，校园里还没有这种性价比高的SNP基因分型服务。加州大学旧金山分校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、肥胖症和癌症。该提案中概述的主要项目与癌症相关，建议将设备安置在癌症中心内。然而，Sequenom Massarray将成为新成立的合并基因组核心的一部分，并将向加州大学旧金山分校及其附属机构的所有参与机构和部门提供。相关性联邦政府通过美国国立卫生研究院/美国国立卫生研究院资助的倡议，在人类疾病的遗传学方面进行了重大投资。人类和老鼠的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切实利益仍处于初级阶段。这些项目将利用加州大学旧金山分校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，因此符合美国国立卫生研究院的总体战略目标。

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.