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: 10239998
• 负责人: Michael Byrne Robinson
• 金额: $ 132.38万
• 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/10239998
• 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.

（总体研究计划） 项目摘要 通过此应用，我们为智力和发展残疾研究中心寻求资金 （IDDRC）在费城儿童医院（CHOP）和宾夕法尼亚大学（Penn）（宾夕法尼亚大学） 在过去的30年中，一直在不断资助。我们的IDDRC支持一个跨学科计划，是 Chop/Penn的首席机构颁布了智力和发育障碍的研究 （IDD）。我们的使命是为了确定IDD患者的发病机理并开发疗法 通过三个目标。 （AIM 1）领导尖端的IDD研究议程。我们将支持五个研究核心 利用遗传学和神经科学的创新来识别IDD的原因，以确定基因变异 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 这些信息以开发IDD的生物标志物和新治疗方法。我们的核心部署完整的最新 ART技术专注于在两个物种（鼠标和人类）中进行的研究，使中心更容易 成员进行更具影响力的研究。核心强调沿发育范围的研究。 这些策略确保进步将产生翻译影响。核心提供具有成本效益的 支持61名世界一流的中心成员，他们每年由78个赠款资助，每年2910万美元用于学习 IDD的发病机理，识别IDD的新生物标志物并开发新的干预措施（药物） 和遗传）。此外，我们将支持一个创新的研究项目，该项目使用中心核心确定是否是否 可以使用IDD遗传风险的婴儿的听觉加工的磁脑摄影（MEG）测量 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声音实验设计，良好的样本量和健壮的数据分析。 （AIM 2）领导一项多学科职业发展计划，以支持受训者和早期教师。我们的 学员是潜水员，拥有博士学位，MD和MD/PHD，具有遗传学，神经科学和 相关学科。他们获得IDDRC管理计划的支持：Ninds资助的T32培训 授予神经发育障碍，CHOP研究机构资助的临床补充计划 研究研究员，并为助理教授提供了新的计划发展奖。他们 获得多学科培训，可以帮助他们成为IDD研究的未来领导者。 （目标3）支持 网络/协作，倡导以及IDD研究结果的传播。中心领导 将使网络能够支持Chop/Penn IDDRC社区内的协作计划 在IDDRC之间。中心领导将在内部和外部提倡以推进IDD研究 议程。最后，该中心将努力将研究进展传播给患者，家人， 政府官员和其他科学家。采用这种全面的方法，IDDRC在Chop和Penn 将实现我们的目标，即为患有IDD的人推进以患者为中心的创新治疗。