Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center

摘要 我们对波士顿儿童医院和哈佛医学院知识分子和 发展障碍研究中心(IDDRC)是为了及时改善IDD患者的生活 通过我们的机构之间的合作，实现科学研究的高效转化 研究人员和临床医生与外部IDD社区合作。为了实现我们的宏伟愿景，我们 围绕四个明确定义的主题组织中心的研究：1)发现遗传和非遗传 IDD的原因；2)使用先进的成像和分析工具确定IDDS的细胞基础；3) 识别IDD动物模型中的翻译表型以验证治疗方法；4)加速 将研究发现转化为IDDS的新预防和治疗策略。该中心目前 通过行政核心和四个科学部门支持106个研究项目和68名调查人员 核心。行政核心是该中心的中心，因为它提供科学和行政两方面的 领导力，促进协同、跨学科互动，在多个领域解决IDD相关问题 提高水平，培训下一代年轻研究人员，并促进IDD的推广和传播 面向不同受众的研究。遗传分析和编辑核心(GAEC)提供了最新的 基因分析和基因编辑方面的技术进步。细胞成像核心(CIC) 通过最先进的成像和图像分析服务促进细胞和电路生物学的研究 这使得能够对固定组织、体外器官外植体和体内清醒行为模型生物进行可视化。 动物行为和生理学(AB&P)核心为研究人员提供了广泛的 体内啮齿动物行为、生化和生理方面的有效技术和科学专业知识 在良好控制和严格的临床前环境中采取措施。最后，临床翻译核心(CTC) 为IDDRC PI提供将研究发现转化为临床所需的所有服务的完全访问权限 创新；这包括生物样本的收集和存储，患者来源干细胞模型的生成 疾病、临床前药物筛选平台到神经行为和电生理 对不同年龄段的IDD患者进行评估，并为临床试验提供统计和监管支持。 这些核心都通过共享项目进行交互，提供互补的专业知识和工具来解决独特的 核心科学问题的方方面面，核心董事们会面交流思想，优化资源 在执行委员会每月会议上的利用情况。这一综合方法旨在加强 将患者放在药物发现周期的中心，使IDD基础研究具有转化潜力 从基因和分子筛查到临床试验。该中心经常与患者接触- 倡导团体和IDD社区以双向方式确保他们的需求和关切 引导该中心的努力。

ABSTRACT Our overarching vision of the Boston Children’s Hospital and Harvard Medical School Intellectual and Developmental Disorders Research Center (IDDRC) is to improve the lives of individuals with IDD with timely and efficient translation of scientific research through collaboration among our institutions’ exceptional investigators and clinicians in partnership with the external IDD community. To achieve our broad vision, we organize the Center’s research around four clearly defined themes: 1) Discovery of genetic and non-genetic causes of IDD; 2) Determination of the cellular bases of IDDs using advanced imaging and analysis tools; 3) Identification of translational phenotypes in animal models of IDD to validate therapeutics; 4) Accelerated translation of research discoveries into new prevention and treatment strategies for IDDs. The Center currently supports 106 research projects and 68 investigators through the Administrative Core and the four scientific Cores. The Administrative Core is the hub of the Center as it provides both scientific and administrative leadership which promotes synergistic, interdisciplinary interactions that address IDD-related issues at multiple levels, trains the next generation of young investigators and facilitates outreach and dissemination of IDD research to diverse audiences. The Genetic Analysis and Editing Core (GAEC) provides access to the latest technological advances both in genetic analysis and in gene editing. The Cellular Imaging Core (CIC) facilitates the study of cellular and circuit biology through state-of-the-art imaging and image analysis services which enable visualization of fixed tissue, in vitro organ explants and in vivo awake behaving model organisms. The Animal Behavior and Physiology (AB&P) Core provides investigators with access to a wide range of validated technologies and scientific expertise for in vivo rodent behavioral, biochemical and physiological measures in a well-controlled and rigorous preclinical setting. Finally, the Clinical Translational Core (CTC) provides full access for IDDRC PIs to all services required for translation of research discoveries into clinical innovation; this ranges from biosample collection and storage, generation of patient-derived stem cell models of diseases, drug screening platforms on the preclinical side to neurobehavioral and electrophysiological assessment of IDD patients of different age groups as well as statistical and regulatory support of clinical trials. The Cores all interact through shared projects, providing complementary expertise and tools to address unique aspects of central scientific questions, and the Core directors meet to exchange ideas and optimize resource utilization in the monthly Executive Committee meetings. This integrated approach aims to enhance the translational potential of basic research in IDD by putting patients at the center of the drug discovery cycle starting with genetic and molecular screens through clinical trials. The Center engages frequently with patient- advocacy groups and the IDD community in a bi-directional manner to ensure that their needs and concerns steer the Center’s efforts.