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）的这一行政补充的目标是通过完成唐氏综合征（DS）患者的泛组学队列研究的试点阶段，显著加快唐氏综合征（DS）领域的临床和转化科学的步伐。与科罗拉多大学的琳达克尼克唐氏综合症研究所合作，在共同研究员华金埃斯皮诺萨博士的领导下，CCTSI将利用该补充的资金完成人口统计学和临床数据的提取，以及为已经参加克尼克研究所人类三体项目的300名参与者生成关键组学数据集，一项泛组学队列研究，有深入的临床元数据和匹配的生物库。利用现有的生物样本，这一补充将能够创建一个丰富的多维数据集，并将通过目前处于开发后期的研究人员门户网站向公众开放。通过此补充，该领域的研究人员将可以访问用户友好，直观的在线界面来调查以下数据集： · 对300名研究参与者（其中200名患有DS）和100名年龄和性别匹配的典型对照的人口统计学和临床数据进行了深入注释和去识别，涵盖了整个寿命和DS患者中更常见的各种合并症。 · 上述所有300名参与者的散装白色血细胞的转录组学数据。 · 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种炎性细胞因子和趋化因子的血浆水平。 · 所有300名参与者的100种免疫细胞亚型的循环水平，通过质谱细胞术确定。 · 所有300名参与者通过质谱法鉴定的100+注释代谢物的血浆水平。 毫无疑问，这些努力将刺激该领域的额外活动，使研究人员能够快速测试和完善有关分子和细胞机制的假设，推动DS中共同发生的条件。此外，所有人口统计学和临床数据都将与DS-ConnectTM注册中心兼容，所有组学数据也将通过公共存储库提供。 该提案直接涉及"包容"项目的第2部分，（即"通过队列研究对DS进行分子快照"），福尔斯完全符合推进临床和转化科学的母奖项的既定目标，同时也解决了NCATS在转化过程的所有阶段吸引患者和社区的优先事项，在整个生命周期内将服务不足的人群纳入转化研究，开发创新流程，提高转化研究的质量和效率，并使用尖端信息学。