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

（研究报告-总体） 项目摘要 通过这项申请，我们为智力和发育障碍研究中心寻求资金 （IDDRC）在费城儿童医院（CHOP）和宾夕法尼亚大学（Penn）， 在过去的30年里一直得到资助。我们的IDDRC支持跨学科计划，是 CHOP/Penn的首席机构，负责公布智力和发育障碍研究 （缺碘症）。我们的使命是确定IDDs的发病机制并为IDDs患者开发治疗方法 通过三个目标。(Aim 1）领导一个尖端的缺碘症研究议程。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确定IDDs的原因， 改变大脑结构，电路和行为输出（认知，运动，感觉，社会，情感），并利用 利用这些信息来开发IDDs的生物标志物和新的治疗方法。我们的核心部署互补的状态- 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， 成员进行更有影响力的研究。核心强调沿着发展光谱的研究。 这些战略确保这些进展将产生转化影响。核心提供了经济高效的 为61名世界级中心成员提供支持，他们每年获得78笔赠款，总额为2910万美元，用于学习 IDDs的发病机制，以确定IDDs的新生物标志物，并开发新的干预措施（药理学 基因）。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来确定是否 可以使用脑磁图（MEG）测量有IDD遗传风险的婴儿的听觉处理 来预测认知和语言的结果。我们的核心专注于严格和可重复的研究实践， 包括合理的假设检验实验设计、合理的样本量和强大的数据分析。 (Aim 2）领导一个多学科的职业发展计划，以支持学员和早期教师。我们 学员是多样化的，有博士学位，医学博士，医学博士/博士学位，具有遗传学，神经科学和 相关学科。他们得到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，CHOP研究所资助的临床补充计划 研究员，和一个CHOP研究所资助的助理教授新项目开发奖。他们 获得多学科培训，帮助他们成为缺碘症研究的未来领导者。(Aim 3）支持 建立网络/协作、宣传和传播缺碘症研究结果。中心领导层 将使网络支持合作倡议，无论是在CHOP/宾州IDDRC社区， IDDRCs之间。中心领导将在内部和外部倡导推动IDD研究 施政纲要的演讲最后，该中心将努力向患者及其家属传播研究进展， 政府官员和其他科学家。通过这种全面的方法，CHOP和Penn的IDDRC 将实现我们为IDDs患者推进以患者为中心的创新治疗的目标。

(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.