Revolutionizing Biomedical Research and Medicine through Innovative & Cost-Effect

项目描述：（申请人提供）本项目是斯坦福大学基因组技术中心资助的延续申请。我们建议开发三套使能技术和应用程序，提供查询人类基因组的复杂性和人类疾病的分子方面的能力，以大大降低成本。这些创新的技术和方法，鉴于其巨大的成本节约，使基因组学在临床医学中的应用成为一个现实的命题。有了这些新的工具，生物医学研究将得到改善，可以解决的生物和临床问题的范围将扩大，由此产生的人类疾病过程的发现将加速医学实践方式的稳步发展。 第一项工作将开发灵敏、特异和快速的生物传感器，用于查询微量样本，这些样本可以在临床环境中轻松实现。这些技术是快速的-通常是真实的时间。它们是无标签的，依赖于纳米级的检测系统，以提供显着的改善灵敏度和成本。它们有可能在临床上实施。第二项工作将侧重于发现影响疾病的基因组因素的高通量技术。这些都是大规模并行技术。它们比现有的方法更全面，允许同时询问基因组的多个方面，提高我们对导致疾病的分子因素进行新发现的能力，节省大量成本，并且对于使用许多患者样本的研究非常有用。第三项工作的重点是使用酵母模型系统发现与疾病和治疗相关的遗传/基因组因素的复杂组合。我们知道，对于绝大多数疾病，多种遗传因素会影响疾病的风险、严重程度和结果。它们的相互作用和它们的作用机制今天还不容易理解，我们的模式生物方法和伴随的技术可以解决这些问题。 总的来说，这里提出的努力是高度协同的，利用中心的优势，并在我们所说的“医学基因组学”和生物医学研究的分子分析方面发展新的优势。这些努力的重点是对生物医学研究和医学产生最大的影响。

DESCRIPTION: (provided by applicant) This project is a renewal application for the Stanford Genome Technology Center Grant. We propose developing three sets of enabling technologies and applications that offer the ability to query the complexity of the human genome and molecular aspects of human disease at a much reduced cost. These innovative technologies and approaches, given their enormous cost savings, make the application of genomics in clinical medicine a realistic proposition. With these novel tools, biomedical research will be improved, the scope of biological and clinical questions which can be addressed will be expanded and the resulting discoveries in human disease processes will accelerate the steady evolution of improvements in the way medicine is practiced. The first effort will develop sensitive, specific and rapid biosensors for querying minute amounts of samples that can be readily implemented in clinical settings. These technologies are fast - often real time. They are label-free and rely on nano-scale detection systems to provide significant improvements in sensitivity and cost. They have the potential to be implemented in the clinic. The second effort will focus on high-throughput technologies for the discovery of genomic factors that affect diseases. These are massively parallel technologies. They are more comprehensive than existing approaches, allow for the simultaneous interrogation of multiple aspects of the genome, improve our ability to make new discoveries of the molecular factors contributing to disease, provide huge cost savings and are useful for research using many patient samples. The third effort focuses on discovering the complex mix of genetic/genomic factors that are relevant to disease and therapeutics using the yeast model system. We know that, for the vast majority of diseases, multiple genetic factors contribute to the risk, severity and outcome of disease. Their interactions and the mechanisms by which they act are not readily understood today and our model organism approach and accompanying technologies allow these questions to be addressed. Taken together, the efforts proposed here are highly synergistic, leverage the strengths of the Center and develop new strengths in what we term "medical genomics" and molecular analysis for biomedical research. These efforts focus on having maximal impact on biomedical research and medicine.