Mental Retardation and Development Disabilities Research

描述(申请人提供)：拟成立的智力低下和发育障碍研究中心(MRDDRC)成立于1990年，并于1995年和1999年续期。它代表了费城儿童医院和宾夕法尼亚大学(宾夕法尼亚大学)的合作。在这次续签申请中，要求资金支持五个核心设施和新计划开发项目。核心是：(A)行政核心，提供对解除武装、复员和重返社会方案的全面管理。它管理所有的教育项目、系列讲座和新项目开发项目。它还监督拟议的中大西洋研究联盟，这是一个新的企业，将鼓励宾夕法尼亚大学的MRDDRC、约翰·霍普金斯大学和儿童国家医学中心进行更多的联合研究。(B)生物统计学和生物信息学，就研究设计、统计分析和数据库设计提供咨询。一个新的重点是生物信息学，它对解释从DNA芯片阵列分析中挑选出来的数据至关重要。(C)分子遗传学，为DNA测序、荧光片段分析、COSMIG重叠群突变检测、YAC文库筛选、定量聚合酶链式反应分析、基因图谱、细胞培养等提供集中设施。(D)分析神经化学和光谱学，在生化分析方面提供专家和支助。该核心有助于进行广泛的神经化学分析，从脑组织到体外活细胞，再到完整的有机体。它结合了稳定同位素的质谱分析、生物胺和氨基酸的高效液相色谱、正电子发射断层扫描(PET)服务和活细胞中的荧光分析。一个新的组成部分是建议的蛋白质组学亚核，它有助于表征神经化学感兴趣的蛋白质。(E)细胞神经科学，在共聚焦显微镜、细胞结构分析和细胞培养方面提供支持和建议。一个新的组成部分是使用电压敏感染料对切片制备中的电路功能进行光学成像的技术的可用性。最后，核心建议为用户提供开发和保存小鼠模型(转基因和敲除)的专业知识。这些单位为NIH资助的96个项目提供服务，这些项目的年总价值超过1200万美元(NICHD提供的150万美元以上)。该中心包括60多名宾夕法尼亚大学的教职员工，分别代表医学院、兽医学院、护理学院、维斯塔尔研究所和艺术与科学学院的15个系。

DESCRIPTION (provided by applicant): The proposed Mental Retardation and Developmental Disabilities Research Center (MRDDRC) was established in 1990 and renewed in 1995 and 1999. It represents the collaboration of the Children's Hospital of Philadelphia and the University of Pennsylvania (Penn). In this renewal application, funds are requested to support five core facilities and New Program Development projects. The cores are: (A) Administrative Core, which provides overall management of the MRDDRC. It administers all educational programs, lecture series, and the New Program Development projects. It also oversees the proposed Mid-Atlantic Research Consortium, a new venture that would encourage more joint research at the MRDDRCs at Penn, Johns Hopkins, and Children's National Medical Center. (B) Biostatistics and Bioinformatics, which provides consultation with regard to study design, statistical analysis, and database design. A new emphasis is bioinformatics, which is crucial to the interpretation of data culled from chip array analysis of DNA. (C) Molecular Genetics, which provides a centralized facility for DNA sequencing, fluorescent fragment analysis, mutation detection with cosmig contigs, screen of YAC libraries, quantitative PCR analysis, gene mapping, cell culture, etc. (D) Analytical Neurochemistry and Spectroscopy, which provides expert and support with regard to biochemical analyses. The core facilitates a wide spectrum of neurochemical analysis, from brain tissue to living cells in vitro to the intact organism. It combines mass spectrometric analysis of stable isotopes, HPLC of biogenic amines and amino acids, positron emission tomography (PET) services and fluorescent assays in live cells. A new component is the proposed Proteomics Subcore that facilitates characterization of proteins of neurochemical interest. (E) Cellular Neuroscience, which provides support and advice with regard to confocal microscopy, cytoarchitectural analysis, and cell culture. A new component is the availability of techniques for optically imaging circuit function in slice preparations using voltage sensitive dyes. Finally, the core proposes to provide users with expertise for the development and preservation of mouse models (transgenic and knock-outs). These units service more than 96 NIH -funded projects with an aggregate annual value of more than $12 million (greater than $1.5 million from NICHD). The Center includes more than 60 Penn faculty members representing 15 departments at the School of Medicine, School of Veterinary Medicine, The School of Nursing, the Wistar Institute, and the College of Arts and Sciences.