The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/Penn

CHOP/宾夕法尼亚大学智力与发育障碍研究中心 (IDDRC)

• 批准号: 10450692
• 负责人: ERIC D MARSH
• 金额: $ 137.41万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-07-15 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10450692
• 关键词: 22q11; Adult; Advocacy; Advocate; Affective; Award; Behavioral; Biological Markers; Biometry; Brain; Cardiology; Caring; Chalk; Child; Child Care; Clinical; Clinical Research; Cognitive; Collaborations; Communities; Complement; Cultural Diversity; Data Analytics; Data Science; Development; Developmental Disabilities; Discipline; Disease; Doctor of Philosophy; Down Syndrome; Early identification; Emotional; Ensure; Experimental Designs; Faculty; Family; Fostering; Foundations; Funding; Future; Future Generations; Genes; Genetic; Genetic Determinism; Genetic Risk; Goals; Government Officials; Grant; Human; Individual; Infant; Institutes; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Interdisciplinary Study; Intervention; Lead; Leadership; Magnetoencephalography; Measures; Medical; Medical Research; Mission; Motor; Mus; National Institute of Neurological Disorders and Stroke; Nervous system structure; Neurobiology; Neurodevelopmental Disability; Neuronal Differentiation; Neurosciences; Output; Pathogenesis; Patients; Pediatric Hospitals; Pennsylvania; Perinatology; Pharmacology; Philadelphia; Policy Maker; Population; Positioning Attribute; Prader-Willi Syndrome; Pre-Clinical Model; Program Development; Reproducibility; Research; Research Design; Research Institute; Research Personnel; Research Project Grants; Sample Size; Scientist; Sensory; Series; Services; Structure; Techniques; Technology; Testing; Time; Training; Training Programs; Translational Research; Turner' s Syndrome; Underrepresented Minority; United States; Universities; Vocabulary; Work; auditory processing; base; behavioral outcome; brain behavior; career; career development; community building; community center; cost effective; data integration; design; disability; effective intervention; genetic variant; genomic data; improved; induced pluripotent stem cell; innovation; language outcome; member; multidisciplinary; neural circuit; neuroimaging; neuromechanism; new technology; novel; novel marker; patient oriented; post-doctoral training; professor; programs; recruit; social; sound; support network; therapy development; translational impact

(RESEARCH PLAN- OVERALL) PROJECT SUMMARY With this application, we seek funding for the Intellectual and Developmental Disabilities Research Center (IDDRC) at the Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania (Penn), which has been continuously funded for the past 30 years. Our IDDRC supports an interdisciplinary program and is the chief agency at CHOP/Penn for the promulgation of research into the Intellectual and Developmental Disabilities (IDDs). Our mission, to identify the pathogenesis of and develop therapies for individuals with IDDs, is pursued through three aims. (Aim 1) Lead a cutting-edge IDD research agenda. We will support five research cores that harness innovations in genetics and neuroscience to identify the causes of IDDs, to determine how gene variants alter brain structure, circuitry, and behavioral outputs (cognitive, motor, sensory, social, affective), and to utilize this information to develop biomarkers and new treatments for IDDs. Our cores deploy complementary state-of- the-art technologies, focusing on studies performed in two species (mouse & human), making it easier for center members to perform more impactful research. Cores emphasize research along the developmental spectrum. These strategies ensure that the advances will have a translational impact. The cores provide cost-effective support for 61 world-class center members, who are funded by 78 grants totaling $29.1 million annually to study the pathogenesis of IDDs, to identify new biomarkers of IDDs, and to develop novel interventions (pharmacologic and genetic). In addition, we will support an innovative research project that uses center cores to determine if magnetoencephalography (MEG) measures of auditory processing in infants at genetic risk for IDD can be used to predict cognitive and language outcome. Our cores focus on rigorous and reproducible research practices, including sound experimental design for hypothesis testing, well-justified sample sizes, and robust data analytics. (Aim 2) Lead a multi-disciplinary career development program to support trainees and early-stage faculty. Our trainees are diverse and have PhDs, MDs, and MD/PhDs with backgrounds in genetics, neuroscience, and related disciplines. They receive support from IDDRC-administered programs: a NINDS-funded T32 Training Grant in Neurodevelopmental Disabilities, a CHOP Research institute-funded supplement program for clinical research fellows, and a CHOP-institute funded New Program Development award for Assistant Professors. They obtain multidisciplinary training that helps them become future leaders in IDD research. (Aim 3) Support Networking/Collaboration, Advocacy, and the Dissemination of IDD Research findings. The Center leadership will enable networking to support collaborative initiatives, both within the CHOP/Penn IDDRC community and between IDDRCs. Center leadership will advocate both internally and externally to advance an IDD research agenda. Finally, the Center will lead an effort to disseminate research advances to patients, their families, to government officials, and to other scientists. With this comprehensive approach, the IDDRC at CHOP and Penn will achieve our goal of advancing patient-centered innovative treatments for individuals with IDDs.

（研究计划-总体） 项目概要 通过此申请，我们为智力和发育障碍研究中心寻求资金 费城儿童医院 (CHOP) 和宾夕法尼亚大学 (Penn) 的 (IDDRC) 我们的 IDDRC 在过去 30 年来一直得到持续资助，支持跨学科项目。 CHOP/宾夕法尼亚大学传播智力和发育障碍研究的首席机构 我们的使命是确定 IDD 患者的发病机制并开发治疗方法。 通过三个目标（目标 1）领导前沿 IDD 研究议程。 利用遗传学和神经科学领域的创新来确定 IDD 的原因，确定基因变异如何影响 改变大脑结构、电路和行为输出（认知、运动、感觉、社交、情感），并利用 我们的核心利用这些信息来开发 IDD 的生物标志物和新疗法。 最先进的技术，专注于在两个物种（小鼠和人类）中进行的研究，使中心更容易 核心成员强调发展范围内的研究。 这些策略确保这些进步将产生转化影响，核心具有成本效益。 支持 61 名世界级中心成员，他们每年获得 78 项总计 2,910 万美元的赠款资助进行学习 IDD 的发病机制，识别 IDD 的新生物标志物，并开发新的干预措施（药理学 此外，我们将支持一个创新研究项目，该项目使用中心核心来确定是否存在。 可以使用脑磁图 (MEG) 测量有 IDD 遗传风险的婴儿的听觉处理 预测认知和语言结果我们的核心专注于严格且可重复的研究实践， 包括用于假设检验的合理实验设计、合理的样本量和强大的数据分析。 （目标 2）领导一个多学科职业发展计划，为学员和早期教师提供支持。 学员多种多样，拥有博士学位、医学博士和医学博士/博士，具有遗传学、神经科学和 他们获得 IDDRC 管理的项目的支持：NINDS 资助的 T32 培训 神经发育障碍补助金，一项由 CHOP 研究所资助的临床补充计划 研究人员，以及 CHOP 研究所资助的助理教授新项目开发奖。 获得多学科培训，帮助他们成为 IDD 研究的未来领导者（目标 3）支持。 IDD 研究成果的网络/协作、宣传和传播。 将使网络能够支持 CHOP/Penn IDDRC 社区内的协作计划以及 中心领导层将在内部和外部倡导推进 IDD 研究。 最后，该中心将努力向患者及其家人传播研究进展。 CHOP 和宾夕法尼亚大学的 IDDRC 通过这种综合方法向政府官员和其他科学家提供了帮助。 将实现我们为 IDD 患者推进以患者为中心的创新治疗的目标。