Angelman Syndrome (AS)

这是一个竞争性的续期申请，来自一个机构间的研究小组， 对Angelman综合征（AS）、Rett综合征（RTT）和Prader-Willi综合征（PWS）感兴趣， 罕见病临床研究网络（RDCRN）中的罕见病临床研究中心（RDCRC）。 该中心将重点关注这三种疾病的基础上，预期近期的潜力， 有意义的治疗很有效AS的具体目标是：1）对个人进行纵向评估 根据基因型与AS和2）建立基于分子缺陷的基因型-表型相关性 类型.一个探索性的目的是检查现有疗法的疗效，包括发育干预 关于基因型-表型。动物模型研究的最新结果为临床研究提供了基础。 未来五年的审判。AS RDCRC研究中心将位于贝勒圣地亚哥拉迪儿童医院 医学院、波士顿儿童医院、格林伍德遗传中心和范德比尔特大学;地点在 波士顿、休斯顿和纳什维尔将使用GCRC。预计该中心将与 智力和发育障碍中心-IDDRC（前身为MRRC），位于UAB，贝勒，儿童医院 波士顿和范德比尔特。提出了一个广泛的培训计划，以刺激新的 罕见疾病临床研究的研究人员（由1 RSF和PWSA资助）。该中心将积极 与安吉尔曼综合征基金会（ASF）的联系和支持。本RDCRC的网站 可在www.circ.uab.edu查阅。这个网站将扩大，包括广泛的信息，为AS，RTT， 的PWS。

This is a competitive renewal application from an inter-institutional group of investigators with long-standing interest in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) to continue a Rare Diseases Clinical Research Center (RDCRC) within the Rare Diseases Clinical Research Network (RDCRN). The Center will focus on these three disorders based on the expectation that the near-term potential for meaningful therapy is strong. The specific aims for AS are 1) to conduct longitudinal assessments on individuals with AS according to genotype and 2) establish genotype-phenotype correlations based on molecular defect type. An exploratory aim is to examine the efficacy of existing therapies including developmental interventions with respect to the genotype-phenotype. Recent results from studies in animal models provide a basis for clinical trials in the next 5 years. The AS RDCRC sites will be located at Rady Children's Hospital San Diego, Baylor College of Medicine, Children's Hospital Boston, Greenwood Genetic Center, and Vanderbilt University; sites at Boston, Houston, and Nashville will utilize GCRCs. The Center is expected to function synergistically with the Intellectual and Developmental Disability Center-IDDRC (formerly the MRRC) at UAB, Baylor, Children's Hospital Boston, and Vanderbilt. An extensive training program is proposed for stimulating the entry of new investigators into clinical research on rare diseases (funded by 1RSF and PWSA). The Center will have active affiliation with and receive support from the Angelman Syndrome Foundation (ASF). A website for this RDCRC is available at www.circ.uab.edu. This site will be amplified to include a wide range of information for AS, RTT, and PWS.