Support for the Rose F. Kennedy IDDRC

项目总结(总体) 罗斯·F·肯尼迪智力和发育障碍研究中心的主要目的 (RFK IDDRC)是为了改善智力和发育障碍(IDD)儿童的生活。五十 作为NICHD的旗舰之一，多年来在基础、翻译和临床研究方面取得了显著进展 IDDRC，再加上最近重要的教职员工招聘和阿尔伯特·爱因斯坦与 医学院及其大学附属医院蒙特菲奥里医学中心为 我们对IDD研究的承诺继续保持卓越。该中心的4个高度集成和完善的成员- TRAIL科学核心包括：1)我们的临床翻译核心，称为人类临床表型 (核心B，HCP)，旨在促进与IDD相关的参与者的接触和特征 研究；2)神经基因组学设施(核心C，NGEN)，提供尖端的表观遗传学和基因组 人和动物组织的处理和分析；3)神经细胞工程和成像设备 (CORE D，NCEI)，提供最先进的脑细胞操纵和可视化方法；以及4) 用于评估动物行为、新陈代谢、成像和大脑的动物表型鉴定设备(核心E，AP) 功能与通过HCP进入的患者所采取的方法有很大的相似之处。我们每个人 科学核心由行政核心(核心A，ADM)仔细监督和监测，行政核心还 在爱因斯坦/蒙特菲奥雷的外展计划中，担任整个IDDRC的头目 社区和国家都是如此。每个科学核心都与我们选定的研究项目紧密相关 它汇集了一个专注于22q11.2智障问题的多学科调查团队 缺失综合征(22q11.2ds)。肯尼迪国际发展研究中心的一个中心职能是促进实质性联系 爱因斯坦研究实验室和儿童评估和康复中心的诊所之间 (CERC)蒙特菲奥雷儿童和医院(Cham)。总之，这套核心和我们的研究 项目形成了一个以IDD为重点的项目和实践的动态网络，将19个不同的学术机构联系在一起 爱因斯坦和蒙特菲奥雷的20多个与IDD相关的部门和诊所。后者包括22q11.2DS、Rett 威廉姆斯综合征、结节性硬化症、神经纤维瘤病、West综合征和婴儿痉挛、自闭症 谱系障碍，以及广泛的溶酶体疾病。正在启动的新举措包括 根据IDD、新生儿筛查(NBS)和关键基因型别评估早产的结局 与纽约州国家统计局计划高度相关的条件下的表型问题(Krabbe病 和肾上腺脑白质营养不良)。由我们的ADM核心推动的强大外展计划帮助传播关于 IDD研究。过去5年的这些努力使肯尼迪国际发展研究中心处于实质性领导地位。 在新合并的爱因斯坦-蒙特菲奥雷社区的研究和临床战略目标的结合中发挥的作用， 并将在促进未来新的临床研究伙伴关系方面发挥重要作用。

PROJECT SUMMARY (OVERALL) The overarching purpose of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) is to improve the lives of children with intellectual and developmental disabilities (IDD). Fifty years of distinguished progress in basic, translational and clinical research as one of NICHD's flagship IDDRCs, coupled with important recent faculty recruitments and an historic merger between the Albert Einstein College of Medicine and its University-Affiliated Hospital, Montefiore Medical Center, offer a solid platform for continuing excellence in our commitment to IDD research. The Center's 4 highly integrated and complemen- tary scientific Cores consist of: 1) our clinical translational core known as the Human Clinical Phenotyping (Core B, HCP), which serves to facilitate both access to and characterization of participants for IDD relevant research; 2) a Neurogenomics facility (Core C, NGEN) that provides cutting edge epigenetic and genomic processing and analyses on both human and animal tissues; 3) a Neural Cell Engineering and Imaging facility (Core D, NCEI) that provides state-of-the-art approaches to brain cell manipulation and visual-ization; and 4) an Animal Phenotyping facility (Core E, AP) for evaluation of animal behavior, metabolism, imaging and brain function in a manner with strong parallels to approaches taken in patients accessed through HCP. Each of our scientific Cores is carefully overseen and monitored by the Administrative Core (Core A, ADM), which also serves as the head ganglion of the entire IDDRC in its outreach programs to the Einstein/ Montefiore community as well as nationally. Each scientific Core is tightly connected to our selected Research Project which brings together a multidisciplinary team of investigators focused on intellectual disability in 22q11.2 Deletion Syndrome (22q11.2DS). A central function of the RFK IDDRC is to promote the substantive links between Einstein research laboratories and clinics at the Children's Evaluation and Rehabilitation Center (CERC) Children's and the Hospital at Montefiore (CHAM). Together, this set of Cores and our research project form a dynamic network of IDD-focused programs and practices that interlink 19 different academic departments and 20-plus IDD-relevant clinics at Einstein and Montefiore. The latter include 22q11.2DS, Rett and Williams syndromes, tuberous sclerosis, neurofibromatosis, West syndrome and infantile spasms, autism spectrum disorders, and a wide range of lysosomal diseases. New initiatives being set in motion involve outcome assessments of premature birth in terms of IDD and newborn screening (NBS) and critical genotype/ phenotype issues in conditions of high relevance to such NBS programs in New York State (Krabbe disease and adrenoleukodystrophy). Strong outreach programs driven by our ADM core help spread the word about IDD research. Such efforts over the past 5 years have positioned the RFK IDDRC in a substantive leadership role in coupling research and clinical strategic goals across the newly merged Einstein-Montefiore community, and will play an essential role in promotion of new clinical-research partnerships going forward.