SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

项目总结/摘要（总体） 玫瑰F的首要目的是。肯尼迪智力和发育障碍研究中心 (RFK IDDRC）是为了改善智力和发育残疾儿童的生活。五十- 加上多年来在基础，转化和临床研究方面的杰出进展，作为NICHD的旗舰之一 IDDRCs，加上最近重要的教师招聘和阿尔伯特爱因斯坦之间的历史性合并 医学院及其大学附属医院，蒙蒂菲奥里医疗中心，提供了坚实的平台， 继续致力于IDD研究。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）， 有助于接触缺碘症相关研究的参与者并确定其特征; 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备（核心D， NCEI），其提供最先进的脑细胞操作和可视化方法;以及4）动物 表型分析机构（Core E，AP），用于评价动物行为、代谢和成像， 与通过HCP访问的患者中采用的方法非常相似。我们的每一个科学核心 由行政核心（核心A，ADM）仔细监督和监测，行政核心也是负责人 整个IDDRC的神经节在其大量的推广计划，爱因斯坦/蒙蒂菲奥里，布朗克斯社区 以及全国范围内。每个科学核心都与我们的签名研究项目有着重要的联系 它汇集了一个多学科的调查小组，重点是儿童缺碘症的机制， 转录调节因子赖氨酸脱甲基酶5c基因KDM 5C突变。肯尼迪中心的一项核心职能是 IDDRC是为了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）和蒙蒂菲奥里儿童医院（CHAM）。我们一起， 核心和研究项目形成了一个动态网络-一个社区-以缺碘症为重点的方案和做法 该中心将18个不同的学术部门、100多个IDDRC成员和20多个IDD相关诊所连接在一起， 爱因斯坦和蒙蒂菲奥里后者包括22q11.2DS，Rett和威廉姆斯综合征，结节性硬化症， 神经纤维瘤病，韦斯特综合征和婴儿痉挛症，自闭症谱系障碍，以及广泛的 神经代谢紊乱新的举措在这个时候向前迈进，包括我们独特的精度 医学/社区外展计划，我们称之为行动IDD基因团队，我们的目标是加强与我们的联系， Einstein临床合作伙伴（CERC及其附属的UCEDD和LEND计划）在玫瑰的保护伞下 F.肯尼迪中心和通过我们新成立的T32 IDD博士后培训的高度重视 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.