Translating genomic profiling to bedside precision medicine

将基因组分析转化为临床精准医学

• 批准号: 10408439
• 负责人: Peter T Baltrus
• 金额: $ 247.82万
• 依托单位: MOREHOUSE SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-26 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10408439
• 关键词: Acute; Acute Brain Injuries; Address; Affect; Age; Bioinformatics; Blood; Blood specimen; Cardiovascular Diseases; Child health care; Clinical; Clinical Research; Clinical Sciences; Collaborations; Community Health; Computer Analysis; Computers; Coupled; DNA Methylation; Data; Data Scientist; Development; Diagnosis; Disease; Education; Education and Outreach; Elements; Equipment; Event; Exposure to; Faculty; Future; Gene Expression; Gene Expression Profile; Genetic Transcription; Genomic approach; Genomics; Goals; Grant; High Performance Computing; Historically Black Colleges and Universities; Hospitals; Injury; Institutes; Investigation; Laboratories; Learning; Medical; Methods; Minority Groups; Minority-Serving Institution; Modeling; Morehouse School of Medicine; Outcome; Patient-Focused Outcomes; Pattern; Performance; Prognosis; Prognostic Marker; RNA; Race; Reduce health disparities; Reproducibility; Research; Research Activity; Research Personnel; Research Project Grants; Research Training; Resource Allocation; Sentinel; Series; Structure; Students; Teacher Professional Development; Techniques; Technology; Testing; Tissues; Training; Training Activity; Training Programs; Training and Education; Translating; Translations; Traumatic Brain Injury; Underrepresented Minority; Universities; Variant; Work; Workplace; base; cardiovascular risk factor; clinical application; clinical diagnosis; clinical investigation; clinical practice; clinical predictors; clinical prognosis; college; comorbidity; design; diagnostic accuracy; disease diagnosis; disorder risk; education research; genome sciences; graduate student; health disparity; healthy volunteer; innovation; insight; mathematical model; metabolomics; minority communities; minority student; multidisciplinary; outcome prediction; outreach program; point of care; point-of-care diagnostics; precision medicine; predictive marker; prognostic; programs; rapid testing; response; sex; skills; social health determinants; synergism; training opportunity; transcriptome; transcriptomics; translational genomics; undergraduate student

ABSTRACT. This program will establish a new Center for Excellence in Genomics at Morehouse School of Medicine, enabling a comprehensive genomics initiative to be established at a HBCU focused on increasing the representation of under-represented minority students (URM) students in genomics research training, enhancing retraining of faculty and whose focus is the reduction of health disparities in minority populations. We propose this CEGS program in collaboration with our Partners at Emory University, Georgia Institute of Technology, Children’s Health Care of Atlanta, and the Oak Ridge National Laboratories. We focus the research on the application of genomic technologies to point of care utility, with a specific focus on the impact of race, sex, and age on testing accuracy. The program will spur the development of education and training opportunities for URM students withing the Atlanta University Center, (4 HBCUS in Atlanta) and therefore enhance the training and retraining of genomic researchers from URMs. The central premise of the research component of this center is that blood transcriptome analysis may offer an innovative approach to diagnose disease or injury for many clinical conditions. The gal of this study is to push this technology approach closer to clinical practice by understanding key elements of the approach and to learn generalizable rules for implementation. To do this we use three interlinked studies on healthy, acute brain injury and long-term cardiovascular disease, to test reproducibility, and prediction accuracy. We utilize established research programs to enable a rapid testing of the approaches, and the computational expertise of the Oak Ridge National Laboratories to harness AI mathematic modeling to enhance prediction accuracy. At the end of the research program, we will have established a series of best practices for dissemination and future use of the approach. The specific research aims are 1). What is the variance of gene expression in blood? 2). Determine the accuracy of blood RNA expression profile to predict the clinical diagnosis of an acute medical event? 3). Can a blood RNA expression signature identify a patient’s outcome or disease trajectory (prognosis)? Is RNA expression’s effect on patient’s outcome or disease trajectory (prognosis) associated with, independent of, or modified by social determinants of health (SDH). To organize the efficient performance of the program, we establish a research management structure to enable continuous assessment with key go/no go decisions. To translate this research into enhanced education opportunities and retraining, we propose an education core that will focus on adapting an established Masters of Clinical Research course, developing new training modules for students and staff in computational skills and bioinformatics, a small grant program to enhance investigator development. Our final goal is to start to develop a pipeline from undergraduate colleges to enhance bioinformatics and genomics training and research opportunities to help diversify the current genomics workplace.

抽象的。该计划将在莫尔豪斯学院建立一个新的基因组学卓越中心 医学，使 HBCU 能够建立全面的基因组学计划，重点是增加 代表性不足的少数族裔学生 (URM) 学生在基因组学研究培训中的代表性， 加强教师的再培训，其重点是减少少数族裔人口的健康差距。 我们与埃默里大学、佐治亚理工学院的合作伙伴合作提出了这个 CEGS 计划 技术、亚特兰大儿童医疗保健和橡树岭国家实验室。我们专注于 研究基因组技术在护理点应用的应用，特别关注其影响 种族、性别和年龄对测试准确性的影响。该计划将促进教育和培训的发展 亚特兰大大学中心（亚特兰大 4 个 HBCUS）为 URM 学生提供机会，因此 加强对 URM 基因组研究人员的培训和再培训。 该中心研究部分的核心前提是血液转录组分析可能 提供了一种创新的方法来诊断许多临床病症的疾病或损伤。这项研究的女孩是 通过了解该方法的关键要素，推动该技术方法更接近临床实践， 学习通用的实施规则。为此，我们使用了三项相互关联的研究，分别针对健康、急性 脑损伤和长期心血管疾病，以测试再现性和预测准确性。我们利用 建立了研究计划，以便能够快速测试这些方法以及计算专业知识 橡树岭国家实验室利用人工智能数学模型来提高预测准确性。在 研究计划结束时，我们将建立一系列传播和推广的最佳实践 未来使用该方法。具体研究目标是1）。基因表达的方差是多少 血？ 2）。确定血液 RNA 表达谱的准确性以预测急性疾病的临床诊断 医疗事件？ 3）。血液 RNA 表达特征能否识别患者的结果或疾病轨迹 （预测）？ RNA 表达对患者结果或疾病轨迹（预后）的影响与以下因素相关： 独立于健康社会决定因素 (SDH) 或受其影响。 为了组织该计划的有效实施，我们建立了一个研究管理结构 通过关键的继续/不继续决策进行持续评估。为了将这项研究转化为增强的 教育机会和再培训，我们提出了一个教育核心，重点是适应 建立临床研究硕士课程，为学生和工作人员开发新的培训模块 计算技能和生物信息学，这是一项旨在加强研究者发展的小额赠款计划。我们的决赛 目标是开始开发本科院校的管道，以增强生物信息学和基因组学 培训和研究机会，帮助当前基因组学工作场所多样化。