Support for the Rose F. Kennedy IDDRC

对罗斯·F·肯尼迪 IDDRC 的支持

基本信息

批准号：
9750051
负责人：
SOPHIE MOLHOLM
金额：
$ 120.24万
依托单位：
ALBERT EINSTEIN COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
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/9750051
关键词：
22q11 Adrenoleukodystrophy Affect Animal Behavior Animals Basic Science Biological Brain Cellular biology Charge Child Clinic Clinical Clinical Research Collaborations Communication impairment Communities 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 Image Imagery Individual Infantile spasms Institution Intellectual functioning disability Intelligence Interest Group Investigation Laboratory Research Leadership Learning Link Medical center Medicine Memory Mental Retardation and Developmental Disabilities Research Centers Metabolism Mission Monitor Motion National Institute of Child Health and Human Development 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 Rett Syndrome Rewards Role Science Scientist Services Solid Structure Technology Testing Translating Translational Research Translations Tuberous Sclerosis Universities Ursidae Family Williams Syndrome Work animal tissue autism spectrum disorder brain cell cellular engineering cellular imaging clinical phenotype college conotruncal anomaly face syndrome cost effectiveness design human tissue imaging facilities improved innovation insight multidisciplinary multimodality neurogenomics novel therapeutics outreach outreach program patient advocacy group prevent programs screening panel screening program symposium

项目摘要

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.

项目摘要（总体）玫瑰F.肯尼迪知识和发展障碍研究中心的总体目的（RFK IDDRC）是为了改善智力和发育障碍儿童（IDD）的生活。五十作为NICHD的旗舰店之一，基本，转化和临床研究的杰出进展多年 IDDRC，再加上最近的重要教师招募和阿尔伯特·爱因斯坦（Albert Einstein）之间的历史合并医学院及其大学附属医院蒙特菲奥尔医学中心，为在我们对IDD研究的承诺中，持续卓越。该中心的4个高度整合和完整的 Tary科学核心包括：1）我们的临床翻译核心称为人类临床表型（Core B，HCP），它有助于促进参与者的IDD相关参与者的访问和表征研究; 2）提供尖端表观遗传学和基因组的神经基因组学设施（Core C，NGEN）对人体和动物组织的加工和分析； 3）神经细胞工程和成像设施（核心D，NCEI）为脑细胞操纵和视觉化提供了最新的方法；和4）动物表型设施（核心E，AP），用于评估动物行为，代谢，成像和大脑与通过HCP进入的患者采取的方法具有很强相似之处的方式。我们的每个科学核心经过行政核心（核心A，ADM）的仔细监督和监测在Einstein/ Montefiore的外展计划中充当整个IDDRC的头神经节社区和全国。每个科学核心都与我们选定的研究项目密切相关这汇集了一个跨学科的调查人员团队，专注于22q11.2的智力残疾。删除综合征（22q11.2ds）。 RFK IDDRC的核心功能是促进实质链接在爱因斯坦研究实验室和儿童评估与康复中心的诊所之间（CERC）蒙特菲尔（CHAN）的儿童和医院。这套核心和我们的研究在一起项目形成一个以IDD为重点的程序和实践的动态网络，该网络相互链接19不同的学术爱因斯坦和蒙特菲奥雷的部门和20多个与IDD相关的诊所。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，西综合征和婴儿痉挛，自闭症谱系障碍和多种溶酶体疾病。动议的新举措涉及根据IDD和新生儿筛查（NB）和关键基因型/的结局评估与纽约州此类NBS计划高度相关条件的表型问题（克拉贝病）和肾上腺素肌营养不良）。由我们的ADM核心驱动的强大外展计划帮助传播有关 IDD研究。在过去的5年中，这种努力使RFK IDDRC定位为实质性领导在新合并的爱因斯坦 - 蒙特菲奥尔社区的研究和临床战略目标中的耦合中的作用，并将在促进新的临床研究合作伙伴关系中发挥至关重要的作用。