WILLIAMS SYNDROME: BRIDGING COGNITION AND GENES

威廉姆斯综合症：认知和基因之间的桥梁

• 批准号: 6520969
• 负责人: URSULA BELLUGI
• 金额: $ 130.29万
• 依托单位: SALK INSTITUTE FOR BIOLOGICAL STUDIES
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-03-05 至 2004-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6520969
• 关键词: Williams syndrome; cognition; human subject; molecular genetics; neurosciences; patient oriented research

The over-arching goal of the Program Project is to build bridges across disciplines: to link higher cognitive functions, their underlying neurobiological bases, and their molecular genetic underpinnings, using Williams functional magnetic resonance imaging with molecular genetics to study each individual. WMS is a rare genetically based disorder that generally results in mental retardation, distinctive faces, and a specific heart defect. Studies so far suggest that the syndrome also results in a characteristic cognitive profile of dissociations both within and across cognitive domains: severe intellectual deficits but relatively spared language; and severe deficits in spatial construction, but remarkable preserved face processing. These dissociations in higher cognitive functioning make WMS an invaluable paradigm for the study of brain- behavior relationships, and for the mapping of brain and behavior phenotypes to the genome. Subproject 0001 WMS, investigating consistency, variability and the bases for dissociations. Subproject 0002 (Neurophysiological Characterization) will investigate the neural correlates of this cognitive profile, using electrophysiological resolution structural and functional magnetic resonance imaging to investigate neural systems in WMS; Subproject 0004 (Cellular and Molecular Architectonics) will address histological changes in neuronal architecture and gene expression in WMS, and Subproject 0005 (The Molecular Genetic Characterization of Williams Syndrome) will seek an understanding of the molecular genetic basis of the disorder. These Diagnostic Methods and Services. Through links across subprojects 0001, 0002, 0003, 0004, 0004 we will begin to define pathways between genotype and cognitive as well as neural phenotype of WMS. Studies of this unusual disorder, Williams syndrome, will provide new opportunities to explore fundamental issues of cognitive neuroscience that relative cognitive functions to brain organization and to their genetic bases.

该项目的首要目标是建立跨学科的桥梁：将更高的认知功能、潜在的神经生物学基础和分子遗传学基础联系起来，使用Williams功能磁共振成像和分子遗传学来研究每个个体。WMS是一种罕见的遗传性疾病，通常会导致智力迟钝，独特的面孔和特定的心脏缺陷。迄今为止的研究表明，该综合征还导致认知领域内和跨认知领域的分离特征：严重的智力缺陷，但相对较少的语言；在空间构造上有严重缺陷，但面部处理功能保存得很好。这些高级认知功能的分离使WMS成为研究脑-行为关系以及将脑和行为表型映射到基因组的宝贵范例。子项目0001 WMS，调查一致性、可变性和解离的基础。子项目0002（神经生理表征）将研究这种认知特征的神经相关性，使用电生理分辨率结构和功能磁共振成像来研究WMS中的神经系统；子项目0004（细胞和分子建筑学）将研究WMS中神经元结构和基因表达的组织学变化，子项目0005（威廉姆斯综合征的分子遗传学表征）将寻求对该疾病分子遗传学基础的理解。这些诊断方法和服务。通过子项目0001,0002,0003,0004,0004之间的联系，我们将开始定义基因型和认知以及神经表型之间的途径。对这种不寻常的疾病——威廉姆斯综合征的研究，将为探索认知神经科学的基本问题提供新的机会，这些问题将认知功能与大脑组织及其遗传基础联系起来。