System for genetic marker information delivery

遗传标记信息传递系统

• 批准号: 7329051
• 负责人: MARTIN G REESE
• 金额: $ 50.67万
• 依托单位: FABRIC GENOMICS INC.
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-07-01 至 2010-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7329051
• 关键词: American Heart Association; Arts; Biological Markers; Biometry; Businesses; California; Cardiovascular Diseases; Cardiovascular system; Caring; Cause of Death; Clinical Research; Collaborations; Complex; Computer software; Data; Databases; Development; Diagnostic; Disease; Disease Association; Disease Marker; Doctor of Medicine; Early Diagnosis; Epidemiology; Ethnic Origin; Exhibits; Female; Funding; Gender; Genes; Genetic; Genetic Markers; Genetic Polymorphism; Genetic Predisposition to Disease; Genome; Genotype; Goals; Hand; High Risk Woman; Human Genetics; Individual; Information Resources; Institutes; Knowledge; Letters; Literature; Manuals; Marketing; Measures; Medicine; Molecular; Myocardial Infarction; Numbers; Odds Ratio; Outcome; Phase; Phenotype; Pilot Projects; Play; Population; Preventive; Provider; Public Health; Publishing; Quantitative Genetics; Range; Reporting; Research; Research Design; Research Institute; Research Personnel; Resources; Risk; Risk Assessment; Role; San Francisco; Science; Severity of illness; Small Business Funding Mechanisms; Small Business Innovation Research Grant; Societies; Staging; Susceptibility Gene; Symptoms; System; Testing; Universities; Update; Woman; base; cardiovascular disorder risk; case control; design; disability; disorder risk; genetic association; genetic risk assessment; genome sequencing; genome wide association study; improved; interest; killings; men; novel; prevent; professor; prognostic; prospective; prototype; segregation; software development; tool; web interface

DESCRIPTION (provided by applicant): The convergence of recent advances in genome sequencing, genotyping and identification of disease markers has led to the development of the nascent field of personalized medicine, in which an individual's biomarkers can be used to predict his or her disease risks and responsiveness to treatments. Omicia is in the business of developing tools and diagnostics in the field of personalized medicine for cardiovascular disease (CVD). CVD is the leading killer of both men and women and is known to have a strong genetic component Here we propose to develop several tools that aim to identify the genetic components of CVD on a whole-genome scale. The research proposed in this application has three aims. In aim 1, we will update and improve Omicia's Gene Disease Association Database (GDAD) and software, developed during the SBIR Phase I project, to allow whole genome association (WGA) studies to be filtered, annotated, and queried. This will develop into a CVD-centric knowledge resource that will be useful for wide-ranging CVD-related research. Furthermore, this knowledge system will be an essential resource as we carry out in aim 2 a WGA study of myocardial infarction (MI) in women, using a two-stage case-control design involving 1,000 female MI cases and 1,000 female controls. This study will detect novel MI- related markers as well as validate already-published markers. To our knowledge, this will be one of the largest MI risk association studies in women to date. CVD kills more women than men, and 63% of the women who die of a heart attack had exhibited no prior symptoms, so early detection of women's CVD risk is of particular importance. The significant markers from the WGA study will form the basis of a CVD SNP panel that will be designed in aim 3. The GDAD knowledge system as well as the CVD research SNP panel will be commercialized as products directly developed from this SBIR Phase II project. In addition, we expect to identify a number of susceptibility genes that will be further validated by Omicia in other retrospective (and eventually prospective) rigorous clinical studies. Eventually, Omicia plans to develop a CVD risk assessment test that will be of particular importance in the appropriate application of preventive measures in women and has the potential to attain broad clincial acceptance. The outcome of this project will be a research SNP panel to identify markers that are found to be associated with cardiovascular disease (CVD) in women. This SNP panel, along with Omicia's Genome/Disease Association Database (GDAD) knowledge system, will be marketed to CVD researchers to aid them in their quest to uncover the genetic basis of this complex disease. Omicia's ultimate goal is a SNP-based test that will identify women at high risk for CVD, thereby enabling them to begin preventive care before symptoms appear. Since CVD is the leading cause of death and disability in the developed world, and more than half of the women killed by it had exhibited no prior symptoms, Omicia's planned CVD risk assessment test has the potential to significantly improve public health.

描述（由申请人提供）：基因组测序，基因分型和鉴定疾病标志物的最新进展的融合导致了个性化医学的新生领域的发展，在该领域中，可以使用个人的生物标志物来预测他或她的疾病风险和对治疗方法的反应。 Omicia从事心脏血管疾病（CVD）个性化医学领域的工具和诊断方面的业务。 CVD是男性和女性的主要杀手，众所周知，我们建议在这里开发多种工具，旨在以全基因组量表鉴定CVD的遗传成分。本应用程序中提出的研究具有三个目标。在AIM 1中，我们将在SBIR I期项目期间更新和改善Omicia的基因疾病协会数据库（GDAD）和软件，以允许整个基因组协会（WGA）研究进行过滤，注释和查询。这将发展为以CVD为中心的知识资源，将对与CVD相关的广泛研究有用。此外，使用两阶段的病例对照设计，涉及1,000名女性MI病例和1,000名女性对照组，在AIM 2中进行了对女性心肌梗塞（MI）的WGA研究，这将是一种必不可少的资源。这项研究将检测新型的MI-MI-I相关标记，并验证已经发布的标记。据我们所知，这将是迄今为止女性最大的MI风险协会研究之一。 CVD杀死的女性比男性多，而死于心脏病发作的女性中有63％没有表现出以前的症状，因此，早期发现妇女CVD风险尤为重要。 WGA研究的重要标记将构成AIM 3中设计的CVD SNP面板的基础。GDAD知识系统以及CVD研究SNP面板将被商业化，因为该产品直接从该SBIR II期项目直接开发。此外，我们期望确定许多易感基因，这些基因将在其他回顾性（最终是前瞻性）严格的临床研究中进一步证实。最终，Omicia计划开发CVD风险评估测试，该测试在适当的妇女预防措施中特别重要，并有可能获得广泛的clincial接受。该项目的结果将是一个研究SNP面板，以识别与女性中患有心血管疾病（CVD）有关的标记。该SNP面板以及Omicia的基因组/疾病协会数据库（GDAD）知识系统将被销售给CVD研究人员，以帮助他们寻求揭示这种复杂疾病的遗传基础。 Omicia的最终目标是基于SNP的测试，该测试将确定CVD高风险的女性，从而使她们能够在症状出现之前开始预防性护理。由于CVD是发达国家死亡和残疾的主要原因，并且超过一半的妇女没有表现出以前的症状，因此Omicia计划的CVD风险评估测试具有显着改善公共卫生的潜力。