RESEARCH IN PRADER-WILLI SYNDROME AND OBESITY

描述：(根据应聘者的描述改编)这项工作的目标 翻译研究项目是从遗传学和临床上论述 Prader-Willi综合征每个组成部分背后的印记基因(尤其是 导致肥胖的基因)，并探索早期肥胖的潜在作用 儿童期病态肥胖在智力低下中起着重要作用。这将是 通过筛选各种不同候选基因的突变来实现 PWS的表型成分；对患有PWS的儿童进行心理测试 早发性病态肥胖症及其家庭；以及荷尔蒙和 血液和脑脊液的神经递质水平与心理测量和突变 分析。

DESCRIPTION: (Adapted from the candidate's description) The goals of this translational research project are to genetically and clinically dissert the imprinted genes underlying each component of Prader-Willi syndrome (especially the gene causing obesity), and to explore the potential role of early childhood morbid obesity plays in mental retardation. This will be accomplished by screening for mutations in candidate genes for various phenotypic components of PWS; performing psychometric testing on children with early onset morbid obesity and their families; and correlating hormonal and neurotransmitter levels from blood and CSF with the psychometric and mutation analyses.