Williams Syndrome: Bridging Cognition, Brain and Genes

威廉姆斯综合症：认知、大脑和基因之间的桥梁

• 批准号: 7932384
• 负责人: URSULA BELLUGI
• 金额: $ 14.21万
• 依托单位: SALK INSTITUTE FOR BIOLOGICAL STUDIES
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2011-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7932384
• 关键词: Williams; Syndrome; Bridging; Cognition; Brain

DESCRIPTION (provided by applicant): The overarching goal of this program project is to build bridges across disciplines, linking higher cognitive functions to their underlying neurobiological bases and their molecular genetic underpinnings using a specific genetic disorder, Williams syndrome (WS). To accomplish this goal, the program combines cognitive, electrophysiological, structural and functional imaging, histological, with molecular genetic approaches to study groups of individuals with WS. The findings of peaks and valleys of abilities in WS, including mild to moderate mental retardation in the context of a specific deficit in visuospatial processing, relative strengths in face processing and certain aspects of language, in addition to hypersociability. This unique profile makes WS an invaluable paradigm for the study of brain and behavior relationships, and for mapping to the genome. Program project: Project II, Neurophysiological Imaging characterizes the electrophysiological signature of the WS brain during sensory and cognitive processing. Project III: Functional Neuroimaging, uses multifaceted imaging techniques (high field-structural, functional, and diffusion tensor imaging) to identify neural pathways involved in WS cognition. Project IV. Molecular and Cellular Architectonics, explores histological and gene expression differences within brain areas associated with the cognitive profile of WS. Project I: Neurocognitive Characterization, will examine cognitive processing mechanisms and map sources of cognitive variability to neural pathways and variations in genetic expression. Studies from each project work interactively using integrated approaches to test hypotheses related to dorsoventral and posterior/anterior gradients in brain development, as well as changes within limbic system pathways as they relate to cognition and behavior. Together, these studies provide new opportunities for illuminating pathways among specific genes, neural systems, and cognitive functions.

描述(由申请者提供)：该项目的总体目标是建立跨学科的桥梁，利用一种特定的遗传性疾病--威廉姆斯综合征(WS)，将高等认知功能与其潜在的神经生物学基础及其分子遗传学基础联系起来。为了实现这一目标，该计划结合了认知、电生理、结构和功能成像、组织学和分子遗传学方法来研究WS患者群体。WS能力的高峰和低谷的发现，包括在视觉空间处理特定缺陷的背景下的轻度到中度智力低下，面孔处理和语言的某些方面的相对强项，以及超社交能力。这一独特的特征使WS成为研究大脑和行为关系以及绘制基因组图的无价范例。 计划项目： 项目二，神经生理成像描述了WS脑在感觉和认知过程中的电生理特征。项目III：功能神经成像，使用多方面成像技术(高场结构、功能和扩散张量成像)来识别与WS认知有关的神经通路。项目IV。分子和细胞建筑学，探索与WS的认知特征相关的脑区的组织和基因表达差异。项目I：神经认知特征，将检查认知处理机制，并将认知可变性的来源映射到神经路径和基因表达的变化。来自每个项目的研究使用综合方法交互工作，以测试与大脑发育中的背腹和后/前梯度相关的假说，以及与认知和行为有关的边缘系统路径内的变化。总之，这些研究为阐明特定基因、神经系统和认知功能之间的途径提供了新的机会。