RARE DISEASE CRC

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。这是一个长期对Rett综合征，Angelman综合征（AS）和Prader-Willi综合征（PWS）感兴趣的机构间研究小组的申请，旨在建立一个罕见疾病临床研究中心（RDCRC），该中心将成为拟议的罕见疾病临床研究网络（RDCRN）的一部分。Rett的具体目标是在广泛的Rett表型上建立表型/基因型相关性，对广泛的Rett个体样本进行纵向研究，并对广泛的Rett个体进行生存研究。AS的具体目标是根据基因型对AS患者进行纵向评估，完成正在进行的叶酸和甜菜碱在AS中的双盲、安慰剂对照试验，并开发一项在AS患者中激活UBEM的父方等位基因的后续临床试验。PWS的具体目标是根据基因型进行纵向研究，开发临床试验的参数和工具，测试自闭症特征在UPD中是否比在缺失病例中更常见，以及合作者的其他想法。在微阵列上使用比较基因组杂交（CGH）的试点项目的目的是开发一种细胞遗传学测试，该测试将使用CGH微阵列在一次分析中检测所有具有临床相关性的相当大的缺失和重复。RDCRC将利用休斯顿、波士顿、圣地亚哥、盖恩斯维尔和其他地点的GCRC。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This is an application from an inter-institutional group of investigators with long-standing interest in Rett syndrome, Angelman syndrome (AS), and Prader-Willi syndrome (PWS) to establish a Rare Diseases Clinical Research Center (RDCRC) that would be part of the proposed Rare Diseases Clinical Research Network (RDCRN). The specific aims for Rett will be to establish a phenotype/genotype correlation over a broad spectrum of Rett phenotypes, to perform longitudinal studies on a broad sample of individuals with Rett, and to perform a survival study on a broad spectrum of Rett individuals. The specific aims for AS are to conduct a longitudinal assessment of patients with AS according to genotype, to complete the ongoing double-blind, placebo controlled trial of folic acid and betaine in AS, and to develop a follow-on clinical trial for activation of the paternal allele for UBEM in AS patients. The specific aims for PWS are to conduct longitudinal studies according to genotype, to develop parameters and tools for clinical trials, to test whether autistic features are more frequent in UPD than in deletion cases, and other ideas from collaborators. The aim of a pilot project using comparative genomic hybridization (CGH) on microarrays would be to develop a cytogenetic test that would detect all sizable deletions and duplications of clinical relevance on a single analysis using CGH microarrays. The RDCRC will utilize GCRCs in Houston, Boston, San Diego, Gainesville, and other locations.