PRADER-WILLI SYNDROME AND EARLY-ONSET MORBID OBESITY NATURAL HISTORY CLINICAL PR

普瑞德威利综合征和早发性病态肥胖自然史临床公关

• 批准号: 8166923
• 负责人: VIRGINIA Eunice KIMONIS
• 金额: $ 0.17万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166923
• 关键词: Affect; Behavioral; Child; Childhood; Chromosomes; Clinical; Clinical Research; Complex; Computer Retrieval of Information on Scientific Projects Database; Data; Diagnostic; Disease; Endocrinology; Evaluation; Failure to Thrive; Funding; Future; Genes; Genetic; Genotype; Goals; Grant; Hyperphagia; Hypogonadism; Impaired cognition; Individual; Institution; Morbid Obesity; Muscle hypotonia; Mutation; Natural History; Neonatal; Obesity; Phenotype; Population; Population Study; Prader-Willi Syndrome; Research; Research Personnel; Resources; Source; Syndrome; United States National Institutes of Health; early onset; neurobehavioral

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. The goal of this study, as a component of the NIH-sponsored Rare Diseasese Clinical Research Network (RDCRN), is to obtain detailed longitudinal natural history data on a large population of individuals affected by Prader-Willi syndrome (PWS) and, to a lesser extent, individuals who have Early Morbid Obesity (EMO) not due to PWS. The ultimate hope is that this well-studied population will provide data to be used in future for diagnostics, therapies and genotype-phenotype correlations for these two diseases. Prader-Willi syndrome (PWS) is a complex neurobehavioral syndrome whose main clinical features include obesity, hyperphagia, hypotonia, cognitive impairment, a distinct behavioral phenotype, hypogonadism, and neonatal failure-to-thrive. The genetic defect has been localized to a 2 megabase region of chromosome 15q11-q13. It is a contiguous gene syndrome with the loss of expression of several genes resulting in the complete phenotype. As PWS is the most common recognized genetic cause of morbid obesity, a growing number of morbidly obese children are being referred to pediatric genetics and pediatric endocrinology for evaluation of PWS. Many of these children clinically and molecularly do not have PWS. We refer to these individuals as the Early Morbid Obesity (EMO) population.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 作为NIH赞助的罕见疾病临床研究网络（RDCRN）的组成部分，这项研究的目的是获得有关大量受Prader-Willi综合征（PWS）影响的详细的纵向自然历史数据，并且在较小程度上，没有育早期肥胖（EMO）的个人在较小的程度上。最终的希望是，这两种疾病的诊断，疗法和基因型 - 表型相关性将在将来用于将来使用的数据。 Prader-Willi综合征（PWS）是一种复杂的神经行为综合征，其主要临床特征包括肥胖，心脏，肌张力低下，认知障碍，独特的行为表型，性能障碍和新生儿失败。遗传缺陷已定位在15q11-Q13染色体的2兆瓦区域。 这是一个连续的基因综合征，几种基因的表达丧失，导致完整的表型。由于PWS是病态肥胖症最常见的遗传原因，因此，越来越多的病态肥胖儿童被转诊为儿科遗传学和儿科内分泌学以评估PWS。 这些孩子中的许多在临床和分子上没有PW。 我们将这些人称为早期病态肥胖（EMO）人群。