Colorado Clinical and Transational Sciences Institute

科罗拉多临床和转化科学研究所

• 批准号: 9926512
• 负责人: RONALD J. SOKOL
• 金额: $ 77.57万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-08-01 至 2020-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9926512
• 关键词: Abbreviations; Adult; Advisory Committees; Biomedical Research; Biometry; Center for Translational Science Activities; Child; Clinical; Clinical Research; Clinical Sciences; Clinical Trials; Collaborations; Colorado; Communities; Computerized Medical Record; Contracts; Development; Discipline of Nursing; Elderly; Ensure; Environment; Evaluation; Funding; Goals; Grant; Health; Healthcare; Home environment; Hospitals; Informatics; Infrastructure; Innovation Corps; Institutes; Institutional Review Boards; Interdisciplinary Study; Knowledge; Longevity; Maps; Maternal and Child Health; Measurable; Medical; Medical center; Mentors; Methodology; Methods; Monitor; Multi-Institutional Clinical Trial; Outcomes Research; Participant; Patient Care; Patients; Pediatric Hospitals; Performance; Pharmacologic Substance; Pharmacy Schools; Phase; Procedures; Process; Program Development; Public Health; Public Health Schools; Rare Diseases; Research; Research Design; Research Personnel; Research Training; Resources; Review Committee; Safety; School Dentistry; Science; Services; System; TNFSF15 gene; Time; Training; Training Programs; Training and Education; Translating; Translational Research; Translations; United States National Institutes of Health; Universities; Veterans; Workforce Development; authority; career development; college; community organizations; cost effective; effective therapy; electronic data; epidemiology study; follower of religion Jewish; improved; innovation; medical schools; named group; next generation; novel; pre-doctoral; programs; recruit; success; translational pipeline; translational scientist

The goal of this Administrative Supplement to the Colorado Clinical and Translational Sciences Institute (CCTSI) is to significantly accelerate the pace of clinical and translational sciences in the field of Down syndrome (DS) by completing the pilot phase of a pan-omics cohort study of people with DS. Working in collaboration with the Linda Crnic Institute for Down Syndrome at the University of Colorado, under the leadership of co- Investigator Dr. Joaquin Espinosa, the CCTSI will use the funding from this supplement to complete abstraction of demographics and clinical data, as well as generation of key -omics datasets for 300 participants already enrolled in the Crnic Institute’s Human Trisome Project, a pan-omics cohort study with deep clinical metadata and a matching biobank. Using biological samples already available, this supplement will enable the creation of a rich multidimensional dataset, which will be made publicly accessible through a Researcher Gateway web portal that is currently in advanced stages of development. Enabled by this supplement, researchers in the field will have access to a user-friendly, intuitive, online interface to investigate the following datasets: • Deeply annotated, de-identified demographics and clinical data for 300 research participants, 200 of them with DS, and 100 age- and gender-matched typical controls, covering the entire lifespan and a wide range of co- morbidities more frequent in people with DS. • Transcriptomics data for bulk white blood cells for all 300 participants mentioned above. • Plasma proteomics data for 5000+ epitopes for all 300 participants. • Plasma levels of 54 inflammatory cytokines and chemokines for all 300 participants. • Circulating levels of 100 immune cell subtypes defined by mass-cytometry for all 300 participants. • Plasma levels of 100+ annotated metabolites identified by mass-spectrometry for all 300 participants. Undoubtedly, these efforts will stimulate additional activity in the field by enabling researchers to rapidly test and refine hypotheses about the molecular and cellular mechanisms driving co-occurring conditions in DS. Furthermore, all demographics and clinical data will be made compatible with the DS-ConnectTM registry, and all -omics data will be also made available through public repositories. This proposal, which directly addresses Component 2 of the INCLUDE project (i.e. ‘molecular snapshot of DS through a cohort study’), falls well within the stated goal of the parent award of advancing clinical and translational sciences, while also addressing NCATS priorities of engaging patients and communities in all phases of the translational process, integrating an underserved population in translational research across the lifespan, developing innovative processes to increase the quality and efficiency of translational research, and using cutting-edge informatics.

科罗拉多临床和转化科学研究所 (CCTSI) 的行政补充文件的目标是通过完成唐氏综合症 (DS) 患者泛组学队列研究的试点阶段，显着加快唐氏综合症 (DS) 领域的临床和转化科学步伐。 CCTSI 与科罗拉多大学 Linda Crnic 唐氏综合症研究所合作，在联合研究员 Joaquin Espinosa 博士的领导下，将利用本补充品的资金完成人口统计和临床数据的提取，并为已经参加 Crnic 研究所人类三体项目的 300 名参与者生成关键组学数据集，该项目是一项深入研究的泛组学队列研究。 临床元数据和匹配的生物库。使用现有的生物样本，该补充将能够创建丰富的多维数据集，该数据集将通过目前处于开发高级阶段的研究人员网关门户网站公开访问。通过此补充，该领域的研究人员将可以访问用户友好、直观的在线界面来研究以下数据集： • 对 300 名研究参与者（其中 200 名 DS 患者）和 100 名年龄和性别匹配的典型对照进行深度注释、去识别化的人口统计和临床数据，涵盖整个生命周期以及 DS 患者更常见的各种合并症。 • 上述所有 300 名参与者的大量白细胞转录组学数据。 • 所有300 名参与者的5000 多个表位的血浆蛋白质组学数据。 • 所有300 名参与者的54 种炎症细胞因子和趋化因子的血浆水平。 • 通过质谱流式细胞仪为所有 300 名参与者确定 100 种免疫细胞亚型的循环水平。 • 通过质谱分析确定所有 300 名参与者的 100 多种注释代谢物的血浆水平。 毫无疑问，这些努力将使研究人员能够快速测试和完善关于驱动 DS 共存条件的分子和细胞机制的假设，从而刺激该领域的更多活动。此外，所有人口统计和临床数据将与 DS-ConnectTM 注册表兼容，所有组学数据也将通过公共存储库提供。 该提案直接涉及 INCLUDE 项目的第 2 部分（即“通过队列研究获得 DS 的分子快照”），完全符合母奖推进临床和转化科学的既定目标，同时还解决了 NCATS 的优先事项，即让患者和社区参与转化过程的所有阶段、将服务不足的人群纳入整个生命周期的转化研究、开发创新流程以提高质量和 转化研究的效率，以及使用尖端信息学。