Support for the Rose F. Kennedy IDDRC

对罗斯·F·肯尼迪 IDDRC 的支持

• 批准号: 9229419
• 负责人: SOPHIE MOLHOLM
• 金额: $ 120.24万
• 依托单位: ALBERT EINSTEIN COLLEGE OF MEDICINE, INC
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-09-22 至 2021-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9229419
• 关键词: Adrenoleukodystrophy; Affect; Animal Behavior; Animals; Basic Science; Biological; Brain; Brain imaging; Cellular biology; Charge; Child; Clinic; Clinical; Clinical Research; Collaborations; Communication impairment; Communities; Core Facility; Coupled; Coupling; Development; Diagnosis; Disease; Early treatment; Epigenetic Process; Evaluation; Faculty Recruitment; Family; Fostering; Ganglia; Genetic; Genomics; Genotype; Globoid cell leukodystrophy; Goals; Group Meetings; Head; Hospitals; Human; Human Resources; Individual; Infantile spasms; Institution; Intellectual functioning disability; Intelligence; Interest Group; Investigation; Laboratory Research; Leadership; Learning; Life; Link; Medical center; Medicine; Memory; Mental Retardation and Developmental Disabilities Research Centers; Metabolism; Mission; Monitor; Motion; Neonatal Screening; Neurofibromatoses; Neurons; New York; Outcome Assessment; Participant; Pathogenesis; Pathway interactions; Patient Care; Patients; Pediatric Hospitals; Phenotype; Pilot Projects; Play; Positioning Attribute; Premature Birth; Prevention; Process; Quality Control; Rare Diseases; Rehabilitation Centers; Research; Research Personnel; Research Project Grants; Rewards; Role; Rosa; Science; Scientist; Services; Solid; Structure; Technology; Testing; Translating; Translational Research; Translations; Tuberous Sclerosis; Universities; Ursidae Family; Visual; Williams Syndrome; Work; animal tissue; autism spectrum disorder; brain cell; cellular engineering; cellular imaging; clinical phenotype; college; conotruncal anomaly face syndrome; cost effectiveness; design; forging; human tissue; improved; innovation; insight; multidisciplinary; novel therapeutics; outreach; outreach program; patient advocacy group; prevent; programs; symposium

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.

项目概要（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的目标是改善智力和发育残疾儿童的生活。五十 多年来在基础，转化和临床研究方面取得了杰出的进展，成为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个高度整合和完善的- 科学核心包括：1）我们的临床翻译核心，称为人类临床表型分析 (Core B，HCP），这有助于方便访问和描述参与者的缺碘症相关 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学 处理和分析人类和动物组织; 3）神经细胞工程和成像设施 (Core D，NCEI），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、成像和脑功能 其功能与通过HCP访问的患者中采用的方法非常相似。我们每个 科学核心由行政核心（核心A，ADM）仔细监督和监测，行政核心还 作为整个IDDRC的头神经节在其推广计划，以爱因斯坦/蒙蒂菲奥里 社区以及国家。每个科学核心都与我们选定的研究项目紧密相连 它汇集了一个多学科的研究小组，专注于2011年第22季度的智力残疾。 缺失综合征（22q11.2DS）。肯尼迪国际发展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 Montefiore儿童医院。这组核心和我们的研究 该项目形成了一个以缺碘症为重点的方案和做法的动态网络，将19个不同的学术 爱因斯坦和蒙特菲奥里的20多个部门和IDD相关诊所。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 谱系障碍和广泛的溶酶体疾病。正在启动的新举措包括 根据碘缺乏病和新生儿筛查（NBS）以及关键基因型/ 与纽约州的NBS项目高度相关的条件下的表型问题（克拉伯病 和肾上腺脑白质营养不良）。由我们的ADM核心驱动的强大的外展计划有助于传播以下信息 缺碘症研究。过去五年的这些努力使肯尼迪国际民主与发展中心处于实质性的领导地位 在新合并的爱因斯坦-蒙蒂菲奥里社区中将研究和临床战略目标结合起来的作用， 并将在促进新的临床研究伙伴关系方面发挥重要作用。