RESEARCH IN PRADER-WILLI SYNDROME AND OBESITY

描述：（根据候选人的描述改编）本课程的目标 转化研究项目旨在从遗传学和临床上研究 Prader-Willi综合征的每个组成部分的印记基因（特别是 导致肥胖的基因），并探索早期肥胖的潜在作用。 儿童期病态肥胖导致智力迟钝。 这将是 通过筛选候选基因中的突变来完成各种 PWS的表型组成部分;对患有 早发性病态肥胖及其家庭;以及相关的激素和 血液和脑脊液中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.