Clinical Translational Core

临床翻译核心项目摘要/摘要 我们对神经发育的遗传和环境结构的理解的主要进展 疾病为预防或改善智力和发育障碍(IDD)提供了新的机会。 IDDRC@WUSTL的临床翻译核心(CTC)将作为重要的机构资源 支持将有关IDD致病机制的科学发现应用于实际的研究 患者通过发展以信息为导向的高影响力个性化干预 来自自然历史研究、生物标记物开发和临床试验。反恐委员会将作为一个 IDDRC@WUSTL的综合科学中心将患者及其临床和行为数据连接到 CTC的临床研究和具有模型系统核心和开发的研究机会 神经成像核心。CTC的具体目标是加速IDD的翻译进展，具体目标是 1)为调查人员提供所需的专业知识、资源和评估服务 IDD相关研究受试者的综合临床、行为和基因组特征 通过人类基因组和表型表征单位(HGPCU)和临床试验进行的临床试验 单位(CTU)，并通过在WUSTL建立的最先进的基因组技术服务来利用这一活动 有助于理解影响基因变异的致病性和功能意义 发育中的人脑。2)战略性地利用WUSTL盟军设施的服务和专业知识 关键且经济高效地补充IDDRC@WUSTL科学核心，为一项发现做出贡献 为受IDD影响或处于IDD风险中的个人提供更高影响力的干预和临床试验的管道。首字母 IDD发病机制中的新发现对治疗的影响通常是通过进展首先发现的 在模型系统核心，并为利用CTC服务的翻译应用程序做好准备。同样，大脑 来自发育神经成像核心的电路数据与行为和基因组数据同化 使用CTC资源收集，以识别早期生物标记物风险概况并告知发育时间 干预和预防，3)促进科学活动在发现中的双向交流 人类IDD的致病机制和防治新方法的测试 受试者和处于危险中的人群。这将在与其他两个组件的动态接口的上下文中发生 IDDRC@WUSTL(发展神经成像和模型系统核心)的科学核心设施， 由致力于培养跨学科科学的教职员工联络促进。

Clinical Translational Core Project Summary / Abstract Major advances in our understanding of the genetic and environmental structure of neurodevelopmental disorders present new opportunities to prevent or ameliorate intellectual and developmental disabilities (IDD). The Clinical Translational Core (CTC) of the IDDRC@WUSTL will serve as an essential institutional resource for supporting research that applies scientific discoveries on pathogenic mechanisms of IDD to benefit actual patients through the development of high-impact personalized intervention that is guided by information generated from natural history studies, biomarker development, and clinical trials. The CTC will serve as an integrative scientific hub of the IDDRC@WUSTL linking patients along with their clinical and behavioral data to clinical studies in the CTC and to research opportunities with the Model Systems Core and the Developmental Neuroimaging Core. The Specific Aims of the CTC, designed to accelerate translational advances in IDD, are as follows: 1) To provide investigators with the expertise, resources, and assessment services needed to conduct comprehensive clinical, behavioral, and genomic characterization of human subjects for IDD-related research and clinical trials through the Human Genomic and Phenotypic Characterization Unit (HGPCU) and Clinical Trials Unit (CTU), and to leverage this activity with established, state-of-the-art genome technology services at WUSTL to contribute to understanding of the pathogenicity and functional significance of variation in genes influencing the developing human brain. 2) To strategically harness services and expertise of allied WUSTL facilities that critically and cost-effectively complement the IDDRC@WUSTL scientific cores to contribute to a discovery pipeline for higher-impact intervention and clinical trials for individuals affected by or at risk for IDD. Initial implications-for-treatment of new discoveries in IDD pathogenesis are often first discovered through advances in the Model Systems Core and made ready for translational applications utilizing CTC services. Similarly, brain circuitry data from the Developmental Neuroimaging Core are assimilated with behavioral and genomic data collected using CTC resources to identify early biomarker risk profiles and inform developmental timing of intervention and prevention, 3) To promote bidirectional interchange between scientific activity in the discovery of pathogenic mechanisms and the testing of novel approaches to IDD prevention and treatment in human subjects and among populations at risk. This will occur in the context of a dynamic interface with the other two scientific core facilities of the IDDRC@WUSTL (the Developmental Neuroimaging and Model Systems Cores), facilitated by dedicated faculty liaisons whose roles are to cultivate cross-disciplinary science.