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Mental Retardation and Developmental Disabilities Research Centers 2008

精神发育迟滞和发育障碍研究中心 2008 年

基本信息

批准号：
8743404
负责人：
MICHAEL F CATALDO
金额：
$ 24.24万
依托单位：
HUGO W. MOSER RES INST KENNEDY KRIEGER
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
起止时间：
1997-08-01 至 2014-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8743404
关键词：
Address Amino Acids Area Behavior Behavioral Bioinformatics Brain Cognitive Computer Assisted DNA Data Analyses Development Developmental Disabilities Diffusion Fatty Acids Functional Magnetic Resonance Imaging Gait Genetic Genotype High Pressure Liquid Chromatography Histology Human Image Institutes Institutional Review Boards Leadership Link Lipid Biochemistry Magnetic Resonance Imaging Mass Spectrum Analysis Mental Retardation Mental Retardation and Developmental Disabilities Research Centers Methods Molecular Cytogenetics Molecular Genetics Monitor Motion Motor Neurosciences Participant Phenotype Preparation Protocols documentation RNA Registries Research Science Services Synapses Testing Training United States National Institutes of Health Universities behavior observation design interdisciplinary collaboration learned behavior lectures lipid metabolism neurochemistry neuroimaging organic acid programs response tissue culture

项目摘要

This application for continued support of Years 21 through 25 of the Mental Retardation and Developmental Disabilities Research Center (MRDDRC) at the Kennedy Krieger Institute and Johns Hopkins University is submitted in response to RFA-HD-07-012. The MRDDRC consists of the Administrative Core (Core A) with four subdivisions, and four research cores (Cores B, C, D, and E). Core A (Administrative), provides overall leadership, management, and organizational support to the Center, operates the educational component (lectures and seminars), links users to biostatistical services (a research subdivision), assists with preparation of IRB materials, monitors issues of human research protection, and develops participant registries. Core B (Genetics) provides centralized tissue culture, amino acid/organic acid analyses, standard and molecular cytogenetics, specialized molecular genetics (DNA and RNA analyses) microarrarys and bioinformatics. Core C (Neuroscience) provides synaptic neurochemistry (focusing on histology imaging and high performance liquid chromatography) and lipid biochemistry (lipid metabolism, fatty acid analysis, and mass spectrometry services). Core D (Neuroimaging) provides for acquisition and quantitative analysis of data derived from functional, volumetic, diffusion tensor, and spectroscopic MR imaging. Core E (Behavior Science) offers training of subjects for cooperation with research protocols, selection and administration of standardized tests (developmental, cognitive, and functional), direct observations of behavior, design of activation paradigms for fMRI, and motion analysis (e.g., quantitative computer-assisted methods of documenting gaits, reaching, and learning behaviors within the motor domain). The core units serve 156 projects representing current direct annual NIH support totaling over $104 million dollars. The program addresses 30 of the 31 priority areas set forth in the RFA-HD-07-012, featuring interdisciplinary collaboration and a central theme, brain mechanisms whereby genotypes result in specific cognitive and behavioral phenotypes of mental retardation or developmental disability.

本申请为肯尼迪克里格研究所和约翰霍普金斯大学智力迟钝和发育障碍研究中心（MRDDRC）21至25年级的持续支持，是为了响应RFA-HD-07-012而提交的。 MRDDRC由四个分支的行政核心（核心A）和四个研究核心（核心B、C、D和E）组成。核心A（行政），为中心提供全面领导、管理和组织支持，运营教育部分（讲座和研讨会），将用户与生物统计服务（研究分支）联系起来，协助准备IRB材料，监测人类研究保护问题，并开发参与者登记。核心B（遗传学）提供集中的组织培养、氨基酸/有机酸分析、标准和分子细胞遗传学、专门的分子遗传学（DNA和RNA分析）微阵列和生物信息学。核心C（神经科学）提供突触神经化学（侧重于组织学成像和高效液相色谱）和脂质生物化学（脂质代谢，脂肪酸分析和质谱服务）。核心D（神经成像）提供对来自功能、体积、扩散张量和光谱MR成像的数据的采集和定量分析。核心E（行为科学）提供与研究方案合作的受试者培训，标准化测试（发育，认知和功能）的选择和管理，行为的直接观察，fMRI激活范例的设计和运动分析（例如，定量计算机辅助方法记录运动域内的步态、到达和学习行为）。核心单位为156个项目提供服务，这些项目代表了NIH目前每年的直接支持，总额超过1.04亿美元。该计划涉及RFA-HD-07-012中规定的31个优先领域中的30个，具有跨学科合作和中心主题，即基因型导致智力迟钝或发育障碍的特定认知和行为表型的大脑机制。

项目成果

期刊论文数量（253）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Simulation and Counterconditioning as Adjuncts to Pharmacotherapy for Invasive Pediatric Procedures

模拟和反调节作为侵入性儿科手术药物治疗的辅助手段

DOI：
10.1097/00004703-199506000-00001
发表时间：
1995
期刊：
Journal of Developmental & Behavioral Pediatrics
影响因子：
2.4
作者：
K. Slifer;R. L. Babbitt;Marilyn D. Cataldo
通讯作者：
Marilyn D. Cataldo

X-linked adrenoleukodystrophy: role of very long-chain acyl-CoA synthetases.

X-连锁肾上腺脑白质营养不良：极长链酰基辅酶A合成酶的作用。

DOI：
10.1016/j.ymgme.2004.06.015
发表时间：
2004
期刊：
Molecular genetics and metabolism
影响因子：
3.8
作者：
Jia,Zhenzhen;Pei,Zhengtong;Li,Yuanyuan;Wei,Liumei;Smith,KirbyD;Watkins,PaulA
通讯作者：
Watkins,PaulA

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.

Treacher Collins 综合征患者染色体 4p15.32----p14 缺失：从该区域排除疾病位点，并将匿名 DNA 序列映射到该区域。

DOI：
10.1016/0888-7543(91)90117-w
发表时间：
1991
期刊：
Genomics
影响因子：
4.4
作者：
Jabs,EW;Coss,CA;Hayflick,SJ;Whitmore,TE;Pauli,RM;Kirkpatrick,SJ;Meyers,DA;Goldberg,R;Day,DW;Rosenbaum,KN
通讯作者：
Rosenbaum,KN

SNPchip: R classes and methods for SNP array data.

SNPchip：SNP 数组数据的 R 类和方法。