UCLA IDDRC

加州大学洛杉矶分校国际数据研究中心

基本信息

批准号：
10224907
负责人：
SUSAN Y BOOKHEIMER
金额：
$ 124.16万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-01 至 2025-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10224907
关键词：
3-Dimensional Accountability Advocacy Animal Behavior Animal Model Animals Basic Science Bioinformatics Biological Models Biometry Brain Cells Clinical Clinical Trials Clinical Trials Design Cognition Collaborations Collection Communication Communities Community Outreach Consultations Core Facility D Cells Databases Development Diagnosis Discipline Education Education and Outreach Educational workshop Electrophysiology (science)Environment Epigenetic Process Equipment and supply inventories Faculty Family Fostering Functional Imaging Functional Magnetic Resonance Imaging Funding Gene Expression Genetic Genomics Genotype Goals Grant Group Meetings Health Fairs Human Image Impaired cognition In Vitro Individual Infrastructure Institutes Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Interdisciplinary Study Intervention Lead Longevity Methods Microscopy Minority Mission Modeling Organoids Parents Patients Personal Satisfaction Phenotype Request for Applications Request for Proposals Research Research Personnel Research Project Grants Research Proposals Research Support Resources Rett Syndrome Schools Science Scientist Series Services Sleep Sleep disturbances Slow-Wave Sleep Special Event Spectrum Analysis Structure Syndrome System Systems Analysis Technology Training Translating Translational Research Universities Visit Visualization Washington behavioral phenotyping clinical translation community center community partnership data management data sharing design developmental neurobiology effective therapy experimental study financial incentive genetic analysis genomic data improved in vivo induced pluripotent stem cell innovation innovative technologies interdisciplinary approach interdisciplinary collaboration lectures meetings model development multidisciplinary neurodevelopment new technology novel optogenetics outreach program dissemination recruit sleep abnormalities sleep physiology symposium tool voucher working group

项目摘要

This proposal requests 5 years of additional funding for the UCLA Intellectual and Developmental Disabilities Research Center (IDDRC). For over 40 years, our mission has been to provide an optimal environment for conducting multidisciplinary research into the mechanisms underlying intellectual and developmental disabilities (IDDs), to translate these findings into effective treatments for IDDs, and disseminate these findings to the scientific community and the public. This submission expands on the translational focus that we began 5 years ago with an added emphasis on human research and clinical trials, and closer ties to the community. Each of the 5 cores are structured to facilitate interdisciplinary collaborations, following four thematic goals: 1) providing state of the art infrastructure for IDD related research; 2) encourage innovation by supporting technical development and providing financial incentives for new projects; 3) promote integration across disciplines, by encouraging interdisciplinary research among faculty and between cores; and 4) to disseminate advances in technology to other scientists, train new IDD investigators, and convey findings to the scientific community and stakeholders in community outreach efforts. We propose 5 interacting cores: A: Administration and Dissemination, which oversees core functions and usage, assures quality and accountability, and promotes outreach and dissemination; B: Clinical Translation, supporting clinical trials, recruitment, diagnosis and deep phenotyping, and biosample collection; C: Genetics, Genomics and BioInformatics, which performs genetic analysis, sequencing, expression, and provides resources for planning and executing analysis of genomics data; D: Cells, Circuits and Systems, supporting human iPSC and 3-dimensional organoid development, in- and ex- vivo electrophysiology and optogenetics; and E: Structural and Functional Visualization, which provides training, access, and analysis services for in vitro microscopy, mini-cameras for in vivo visualization, animal and human structural and functional MRI and spectroscopy. Our model research project focuses on mechanisms underlying sleep impairments in two IDDs, building on new findings from our last submission: a near absence of slow-wave sleep in Dup15q syndrome. We will examine mechanisms underlying sleep impairments in Dup15q and Rett's Syndrome using a multidisciplinary approach that includes a clinical component, animal models, and brain organoid model using patient-derived IPSCs, to elucidate how mechanisms underlying altered sleep physiology lead to cognitive dysfunction. Results from this project will directly inform next steps for developing interventions that may modulate sleep and, in turn, neurodevelopment in IDDs.

该提案要求为加州大学洛杉矶分校智力和发育障碍提供 5 年的额外资金研究中心（IDDRC）。 40多年来，我们的使命一直是为人们提供最佳的环境对智力和发育障碍的机制进行多学科研究（IDD），将这些发现转化为 IDD 的有效治疗方法，并将这些发现传播给科学界和公众。此提交内容扩展了我们五年来开始的翻译重点以前更加重视人体研究和临床试验，以及与社区的更密切联系。每一个 5个核心的结构是为了促进跨学科合作，遵循四个主题目标：1）提供 IDD 相关研究的最先进基础设施； 2）通过支持技术鼓励创新开发新项目并提供财政激励； 3）促进跨学科融合鼓励教师之间和核心之间的跨学科研究； 4）传播先进技术向其他科学家提供技术，培训新的 IDD 调查员，并向科学界传达研究结果社区外展工作的利益相关者。我们提出 5 个相互作用的核心： A：管理和传播，监督核心功能和使用，确保质量和问责制，并促进外展和传播； B：临床翻译，支持临床试验、招募、诊断和深入表型分析和生物样本采集； C：遗传学、基因组学和生物信息学，执行遗传分析、测序、表达，并为规划和执行基因组数据分析提供资源； D：细胞、电路和系统，支持人类 iPSC 和 3 维类器官发育，无论是体内还是体外体内电生理学和光遗传学； E：结构和功能可视化，提供培训，体外显微镜、体内可视化微型相机、动物和人类的访问和分析服务结构和功能 MRI 和光谱学。我们的模型研究项目侧重于底层机制基于我们上次提交的新发现，两个 IDD 存在睡眠障碍：几乎不存在慢波 Dup15q 综合征睡眠。我们将研究 Dup15q 和 Rett 睡眠障碍的潜在机制采用多学科方法研究综合征，包括临床成分、动物模型和大脑使用患者来源的 IPSC 建立类器官模型，以阐明改变睡眠生理学的潜在机制导致认知功能障碍。该项目的结果将直接为下一步制定干预措施提供信息这可能会调节睡眠，进而调节 IDD 的神经发育。