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: 6709819
• 负责人: URSULA BELLUGI
• 金额: $ 155.66万
• 依托单位: SALK INSTITUTE FOR BIOLOGICAL STUDIES
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-03-01 至 2009-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6709819
• 关键词: Williams syndrome; clinical research; human subject; patient oriented research

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（由申请人提供）：该项目的总体目标是建立跨学科的桥梁，利用特定的遗传性疾病威廉姆斯综合征（WS）将高级认知功能与其潜在的神经生物学基础和分子遗传基础联系起来。 为了实现这一目标，该项目结合了认知、电生理学、结构和功能成像、组织学以及分子遗传学方法来研究 WS 个体群体。 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情况下的轻度至中度精神发育迟滞、面部处理的相对优势和语言的某些方面，以及超社交性。 这种独特的特征使 WS 成为研究大脑和行为关系以及绘制基因组的宝贵范例。 方案项目： 项目 II，神经生理学成像表征了 WS 大脑在感觉和认知处理过程中的电生理学特征。 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）来识别参与 WS 认知的神经通路。 项目四。 分子和细胞结构学，探索与 WS 认知特征相关的大脑区域内的组织学和基因表达差异。 项目一：神经认知表征，将检查认知处理机制，并将认知变异的来源映射到神经通路和基因表达的变化。 每个项目的研究都使用综合方法交互地进行，以测试与大脑发育中的背腹和后/前梯度相关的假设，以及与认知和行为相关的边缘系统通路的变化。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。