Baylor College of Medicine Intellectual and Developmental Disabilities Research Center

贝勒医学院智力与发育障碍研究中心

• 批准号: 10221022
• 负责人: David Loren Nelson
• 金额: $ 127.93万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-22 至 2025-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10221022
• 关键词: Advanced Development; Age; Basic Science; Biological Markers; Blood; Caring; Cells; Clinical; Clinical Research; Clinical Trials; Collaborations; Communication; Communities; Core Facility; Cost Effectiveness Analysis; Coupled; DNA; Development; Disease; Education; Environment; Fostering; Future; Gene Dosage; Generations; Genetic; Goals; Human Genetics; Individual; Influentials; Infrastructure; Institution; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; International; Intervention; Investigation; Laboratories; Leadership; Medicine; Mentors; Mentorship; Mission; Molecular; Molecular Genetics; Neurons; Neurosciences; Oligonucleotides; Outcome; Pathogenesis; Pediatric Hospitals; Pediatrics; Personal Satisfaction; Phase; Phenotype; Philosophy; Physicians; Play; Population; Psychiatry; Quality of life; Reproducibility; Research; Research Activity; Research Infrastructure; Research Personnel; Research Project Grants; Role; Safety; Science; Scientist; Services; Shapes; Study models; Techniques; Texas; Therapeutic; Tissues; Training; Training and Education; Translational Research; Vision; Whole Organism; animal model development; base; biomarker panel; clinical heterogeneity; clinical trial readiness; college; community partnership; cost effective; drug discovery; education planning; educational atmosphere; gene therapy; improved; in vivo Model; innovation; learning community; multidisciplinary; next generation; novel diagnostics; novel therapeutic intervention; operation; pre-clinical; preclinical study; programs; recruit; specific biomarkers; synergism; therapeutic development

PROJECT SUMMARY/ABSTRACT: The Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at Baylor College of Medicine (BCM IDDRC) has been instrumental in advancing basic science, translational, and clinical endeavors to improve the lives of individuals with intellectual and developmental disability (IDD). Beyond discoveries, the Center has mentored more than two generations of scientists and physicians engaged in research and the care and treatment of individuals with IDD. The mission of the BCM IDDRC is to identify as many causes of IDD as possible, to understand their pathogenesis, and to develop novel diagnostic and therapeutic approaches. To realize this mission, accelerate the research activities of our Investigators and advance development of therapeutics for IDD, we will carry out the following aims: 1) Provide Core facilities and services to advance IDD research. Six cores are proposed to provide innovative, high-quality and cost-effective research services to assist investigators in studies of molecules (Molecular and Expression Analysis), cells and tissues (Cell and Tissue Pathogenesis), circuits (Circuit Analysis and Modulation), and whole organisms (Preclinical and Clinical Outcomes). The Clinical Translational Core will provide services specific for clinical research infrastructure and the Center Administration Core will coordinate overall Center operations along with stakeholder engagement, communication and education; 2) Promote and enhance collaborative efforts and dissemination activities with a comprehensive engagement, communication, and education plan. The Admin Core will promote interactions locally, nationally, and internationally, will implement best practices for community partnerships and dissemination of research findings, and will enhance the training of next-generation IDD researchers; 3) Conduct a multidisciplinary signature research project that leads to clinical trial readiness. The emergence of DNA-based therapies, coupled with exciting discoveries and preclinical studies from the BCM IDDRC, provides exciting opportunities to treat IDDs, but the fact that many IDD-causing genes are dosage sensitive (too much or too little is detrimental) poses a serious challenge requiring robust biological markers meaningful for the individual rather than the population. The Signature Project seeks to develop multidimensional biomarkers (molecules and circuits) for target engagement, safety, and efficacy in six gene dosage dependent IDDs. The Center will support 75 investigators and 72 research projects. For 30+ years the BCM IDDRC has had a profound impact on IDD, elucidating causes, determining mechanisms, and developing interventions. It has fostered an environment that welcomes and supports additional investigators and emphasizes training. As we enter the next decade, Center investigators, their collaborators, and trainees are poised to transform dozens of exciting discoveries into safe therapeutics that will improve the quality of life and well-being of individuals with IDD.

项目摘要/摘要：尤尼斯·肯尼迪·施赖弗智力和发育障碍 贝勒医学院研究中心 (BCM IDDRC) 在推进基础研究方面发挥了重要作用 科学、转化和临床努力改善具有智力和智力的个人的生活 发育障碍（IDD）。除了发现之外，该中心还指导了两代多 从事 IDD 患者研究以及护理和治疗的科学家和医生。使命 BCM IDDRC 的目标是尽可能多地识别 IDD 的原因，了解其发病机制，并 开发新的诊断和治疗方法。为实现这一使命，加快研究步伐 为了我们研究人员的活动并推进 IDD 疗法的开发，我们将开展以下工作 目标： 1) 提供核心设施和服务以推进 IDD 研究。建议提供六个核心 创新、高质量和具有成本效益的研究服务，协助研究人员进行分子研究 （分子和表达分析）、细胞和组织（细胞和组织发病机制）、电路（电路） 分析和调节）和整个生物体（临床前和临床结果）。临床 转化核心将为临床研究基础设施和中心提供特定服务 管理核心将协调整个中心的运营以及利益相关者的参与， 沟通和教育； 2) 促进和加强协作努力和传播活动 制定全面的参与、沟通和教育计划。管理核心将促进 地方、国家和国际的互动将实施社区伙伴关系的最佳实践 和传播研究成果，并将加强下一代 IDD 的培训 研究人员； 3) 开展多学科标志性研究项目并进行临床试验 准备状态。基于 DNA 的疗法的出现，加上令人兴奋的发现和临床前研究 BCM IDDRC 提供了治疗 IDD 的令人兴奋的机会，但事实上，许多 IDD 致病基因 剂量敏感（太多或太少都是有害的）提出了严峻的挑战，需要强大的生物 对个人而非群体有意义的标记。签名项目旨在发展 用于六基因靶标参与、安全性和有效性的多维生物标志物（分子和电路） 剂量依赖性 IDD。该中心将支持 75 名研究人员和 72 个研究项目。 30多年来 BCM IDDRC 对 IDD 产生了深远的影响，阐明了原因、确定了机制并发展了 IDD。 干预措施。它营造了一个欢迎和支持更多调查人员和 强调培训。当我们进入下一个十年时，中心研究人员、他们的合作者和受训者 准备将数十项令人兴奋的发现转化为安全的疗法，从而改善生活质量和 IDD 患者的福祉。