SBIR Phase I: Thermoelectric DNA Sequencer for Mutation Detection

SBIR 第一阶段：用于突变检测的热电 DNA 测序仪

• 批准号: 1141957
• 负责人: Gergana Nestorova
• 金额: $ 15万
• 依托单位: Biovations Engineering
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=1141957&HistoricalAwards=false
• 关键词: SBIR; Phase; Thermoelectric; DNA; Sequencer

This Small Business Innovation Research (SBIR) Phase I project proposes to develop a highly innovative, thermoelectric, microfluidic DNA sequencing method for mutation detection (e.g., SNPs) for applications in personalized medicine. The overall objective is to optimize operational parameters and microfluidic device design variables to overcome three factors that limit the accuracy of the sequencing method. To achieve this overall objective, the project will address the following three technical objectives: Technical objective 1, optimize parameters to ensure that all available nucleotide sites are extended during a single nucleotide injection, technical objective 2, optimize parameters to reduce the level of dNTP misincorporation, and technical objective 3, develop improved strategies for sequencing mutations involving homopolymeric regions. Single nucleotide polymorphisms (SNPs) are single base pair variations within the genome that are important indicators of genetic predisposition towards specific diseases. There is a significant medical need and commercial market in the field of personalized medicine for a less expensive, more efficient, simple and sensitive SNP detection assay. Thermoelectric DNA sequencing is a discontinuous innovation, unlike any existing method for sequencing DNA. Despite the high-risk, successful commercialization of thermoelectric sequencing will provide a transformative, inexpensive, simple method for mutation detection.The broader impact/commercial potential of this project, if successful, is in personalized medicine. SNPs are the most abundant class of polymorphism and predispose individuals to specific diseases and influence their response to drugs. Wide-spread screening of the population for genetic mutations (e.g. SNPs) will dramatically decrease health care costs and produce significant positive social impact by enabling the early detection of inherited disease, more effective and timely treatment, and lower mortality and morbidity among the population. Thermoelectric sequencing offers the potential to transform the field of personalized medicine by extending genetic testing into the clinical laboratory and doctor's office. Genetic testing identifies individuals who have predisposition to diseases before the onset of the symptoms. Cancer for example, one of the leading causes of mortality in the United States, causes 558,644 deaths per year. The cost of cancer treatment is estimated to be $104.1 billion per year that adds to the staggering cost of healthcare in the United States. The cost of healthcare in the United States is $2.199 trillion per year that is 16% of the GDP of the country. Early diagnosis allows early intervention, increases the quality of life of these individuals, and reduces the cost of health care.

这个小企业创新研究（SBIR）第一阶段项目提出开发一种高度创新的热电微流体DNA测序方法用于突变检测（例如，SNPs）在个性化医疗中的应用。 总体目标是优化操作参数和微流体装置设计变量，以克服限制测序方法准确性的三个因素。 为了实现这一总体目标，该项目将解决以下三个技术目标：技术目标1，优化参数，以确保所有可用的核苷酸位点在单核苷酸注射期间延伸，技术目标2，优化参数，以降低dNTP错误掺入的水平，技术目标3，开发改进的策略，用于对涉及均聚区域的突变进行测序。单核苷酸多态性（SNP）是基因组内的单碱基对变异，是特定疾病遗传易感性的重要指标。 在个体化医疗领域中存在对更便宜、更有效、简单和灵敏的SNP检测测定的显著医疗需求和商业市场。热电DNA测序是一种不连续的创新，与任何现有的DNA测序方法不同。 尽管风险很高，热电测序的成功商业化将为突变检测提供一种变革性的、廉价的、简单的方法。如果成功，该项目更广泛的影响/商业潜力将用于个性化医疗。 SNPs是最丰富的多态性类型，使个体易患特定疾病并影响其对药物的反应。 对人口进行广泛的基因突变（如SNPs）筛查将大大降低医疗保健成本，并通过早期发现遗传性疾病、更有效和及时的治疗以及降低人口的死亡率和发病率，产生重大的积极社会影响。 热电测序通过将基因检测扩展到临床实验室和医生办公室，提供了改变个性化医疗领域的潜力。 基因检测可以在症状出现之前识别出有疾病易感性的个体。例如，癌症是美国死亡率的主要原因之一，每年导致558，644人死亡。据估计，癌症治疗的成本每年为1041亿美元，这增加了美国惊人的医疗保健成本。美国每年的医疗保健费用为2.199万亿美元，占该国GDP的16%。 早期诊断允许早期干预，提高这些人的生活质量，并降低医疗保健成本。