SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

项目摘要/摘要(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(IDDS)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个高度集成的科学核心 包括：1)我们的临床翻译核心，称为人类临床表型(核心B，HCP)，它 用于便利参与者获取和描述与缺碘相关的研究；2)a 神经基因组学设施(核心C，NGEN)，提供尖端的表观遗传和基因组处理 对人和动物组织的分析；3)神经细胞工程和成像设施(核心D， NCEI)提供最先进的脑细胞操作和可视化方法；以及4)动物 用于评估动物行为、新陈代谢和成像的表型设备(核心E，AP) 与通过HCP访问的患者所采取的方法有很大相似之处。我们的每个科学核心都是 由行政核心(核心A，行政管理)仔细监督和监测，该核心也是负责人 在爱因斯坦/蒙特菲奥雷、布朗克斯社区的实质性外展方案中，整个IDDRC的神经节 以及全国范围内。每个科学核心都与我们的标志性研究项目有重要联系 它汇集了一个多学科的调查小组，专注于IDD儿童的发病机制 转录调节因子赖氨酸去甲基酶5C基因KDM5C突变。RFK的中心职能 IDDRC将促进爱因斯坦研究实验室和儿童医院诊所之间的实质性联系 评估和康复中心(CERC)和蒙特菲奥雷儿童医院(CHAM)。在一起，我们的 核心和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--社区 它将18个不同的学术部门、100名IDDRC成员和20多家与IDD相关的诊所联系在 爱因斯坦和蒙特菲奥雷。后者包括22q11.2DS、Rett和Williams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 神经代谢紊乱。目前正在推进的新举措包括我们独特的精确度 医学/社区推广计划，我们称之为IDD基因团队行动，我们的目标是加强与我们的 爱因斯坦临床合作伙伴(CERC及其附属的UCEDD和LAND计划)在玫瑰的保护伞下 肯尼迪中心和通过我们新成立的IDD博士后T32培训的高度重视 伙计们。

PROJECT SUMMARY/ABSTRACT (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 (IDDs). Fifty- plus 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 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 visualization; and 4) an Animal Phenotyping facility (Core E, AP) for evaluation of animal behavior, metabolism and imaging 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 substantial outreach programs to Einstein/Montefiore, the Bronx community as well as nationally. Each scientific Core has an essential connection to our signature Research Project which brings together a multidisciplinary team of investigators focused on mechanisms of IDD in children with mutations in the transcriptional regulator lysine demethylase 5c gene, KDM5C. 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) and the Children’s Hospital At Montefiore (CHAM). Together, our Cores and research project form a dynamic network – a community – of IDD-focused programs and practices that interlink 18 different academic departments, >100 IDDRC members 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 neurometabolic disorders. New initiatives moving forward at this time include our unique precision medicine/community outreach program we call Operation IDD Gene Team, our goal to fortify ties with our Einstein clinical partner (CERC and its affiliated UCEDD and LEND programs) under the umbrella of the Rose F. Kennedy Center and a heightened focus on training through our newly established T32 for IDD postdoctoral fellows.