SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

支持 ROSE F KENNEDY IDDRC P50

• 批准号: 10239747
• 负责人: SOPHIE MOLHOLM
• 金额: $ 100万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-07-23 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10239747
• 关键词: 22q11; Advocate; Affect; Animal Behavior; Animals; Basic Science; Biological; Biology; Charge; Child; Clinic; Clinical; Clinical Research; Clinical Trials; Collaborations; Communities; Community Outreach; Coupled; Diagnosis; Disease; Disorder of neurometabolic regulation; Early Diagnosis; Educational workshop; Epigenetic Process; Evaluation; Faculty; Faculty Recruitment; Family; Fostering; Funding; Ganglia; Genes; Genetic Transcription; Genomics; Goals; Grant; Head; Hospitals; Human; Human Resources; Image; Infant; Infantile spasms; Institution; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Laboratory Research; Leadership; Link; Lysine; Medical; Medical center; Medicine; Metabolism; Mission; Monitor; Mutation; National Institute of Child Health and Human Development; Neonatal Screening; Neurodevelopmental Disorder; Neurofibromatoses; Neurons; Newsletter; Online Systems; Outcome; Participant; Pathogenesis; Pathway interactions; Patient Care; Patients; Pediatric Hospitals; Phenotype; Postdoctoral Fellow; Quality Control; Recruitment Activity; Rehabilitation Centers; Research; Research Personnel; Research Project Grants; Rett Syndrome; Role; Science; Scientist; Services; Solid; Structure; Students; TNFRSF5 gene; Talents; Technology; Time; Training; Training Programs; Translating; Translational Research; Tuberous Sclerosis; Universities; Ursidae Family; Visualization; Williams Syndrome; animal tissue; arm; autism spectrum disorder; brain cell; cellular engineering; cellular imaging; clinical care; clinical phenotype; college; cost effectiveness; design; developmental disease; human tissue; imaging facilities; improved; innovation; insight; member; multidisciplinary; multimodality; neurogenomics; next generation; novel; operation; outreach; outreach program; precision medicine; prevent; programs; research study; screening program; symposium; tool

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.

项目摘要/摘要（总体） 罗斯·F·肯尼迪智力与发育障碍研究中心的总体目标 (RFK IDDRC) 的目标是改善智力和发育障碍儿童 (IDD) 的生活。五十- 作为 NICHD 的旗舰之一，多年来在基础、转化和临床研究方面取得了显着进展 IDDRC，加上最近重要的教员招聘以及阿尔伯特·爱因斯坦研究所之间的历史性合并 医学院及其大学附属医院蒙蒂菲奥里医学中心为 我们致力于 IDD 研究，持续追求卓越。该中心的4个高度集成的科学核心 包括：1) 我们的临床转化核心，称为人类临床表型分析（核心 B，HCP）， 旨在促进 IDD 相关研究的参与者的获取和特征描述； 2）一个 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处理以及 对人类和动物组织进行分析； 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； 4) 动物 表型设施（核心 E、AP）用于以以下方式评估动物行为、代谢和成像 与通过 HCP 接触的患者所采取的方法非常相似。我们的每个科学核心都是 由行政核心（核心 A，ADM）仔细监督和监控，该核心也是领导者 整个 IDDRC 的神经节在其对布朗克斯社区爱因斯坦/蒙蒂菲奥里的实质性外展计划中 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着重要的联系 它汇集了一个多学科研究小组，重点研究患有 IDD 的儿童的机制 转录调节因子赖氨酸脱甲基酶 5c 基因 KDM5C 发生突变。 RFK 的核心职能 IDDRC 旨在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) 以及蒙蒂菲奥里儿童医院 (CHAM)。在一起，我们的 核心和研究项目形成了一个动态网络——一个社区——以 IDD 为重点的计划和实践 将 18 个不同的学术部门、> 100 个 IDDRC 成员和 20 多个 IDD 相关诊所联系起来 爱因斯坦和蒙蒂菲奥里。后者包括 22q11.2DS、Rett 和 Williams 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多种 神经代谢紊乱。目前正在推进的新举措包括我们独特的精度 我们称之为 IDD 基因团队行动的医学/社区外展计划，我们的目标是加强与我们的联系 Rose 旗下的 Einstein 临床合作伙伴（CERC 及其附属的 UCEDD 和 LEND 项目） F. 肯尼迪中心，并通过我们新成立的 T32 IDD 博士后更加注重培训 各位。