Clinical Translational Core

临床翻译核心项目总结/摘要 我们对神经发育的遗传和环境结构的理解的重大进展 这些疾病为预防或改善智力和发育残疾（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 支持将科学发现应用于碘缺乏病致病机制的研究， 通过开发以信息为指导的高影响力个性化干预来帮助患者 从自然史研究、生物标志物开发和临床试验中产生。反恐委员会将作为 IDDRC@WUSTL的综合科学中心，将患者沿着其临床和行为数据， CTC中的临床研究，以及与模型系统核心和开发 神经影像学核心。CTC的具体目标旨在加速IDD的转化进展，包括 具体如下：1）为调查人员提供开展调查所需的专业知识、资源和评估服务 用于IDD相关研究的人类受试者的全面临床、行为和基因组表征 通过人类基因组和表型表征单位（HGPCU）和临床试验 单位（CTU），并利用这一活动与既定的，最先进的基因组技术服务在WUSTL 有助于理解致病性和影响基因变异的功能意义， 发育中的人脑2)战略性地利用WUSTL联盟设施的服务和专业知识， 以批判性和成本效益的方式补充IDDRC@WUSTL科学核心，为发现做出贡献 为受缺碘症影响或有患缺碘症风险的个人提供影响更大的干预措施和临床试验的管道。初始 IDD发病机制新发现的治疗意义往往是通过进展首先发现的 在模型系统的核心，并准备翻译应用程序利用CTC服务。同样，大脑 来自发育神经影像核心的电路数据与行为和基因组数据相融合 使用CTC资源收集，以确定早期生物标志物风险特征，并告知 干预和预防，3）促进科学活动之间的双向交流， IDD的致病机制和防治IDD新方法的试验 受试者和高危人群。这将发生在与其他两个的动态接口的上下文中 IDDRC@WUSTL（发育神经成像和模型系统核心）的科学核心设施， 由专门的教师联络员，其作用是培养跨学科的科学促进。

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.