Gene-Enviroment Interaction in Cognition

描述(由申请人提供)：我们建议哥伦比亚大学(CU)和委内瑞拉马拉开波的祖利亚大学(Luz)合作，研究生活条件和环境暴露以及遗传因素对特定认知能力表达的影响。我们的目标是加强委内瑞拉科学家的能力，以设计和执行以从出生到老年的认知障碍为中心的研究，重点研究祖利亚州常见的疾病，包括阿尔茨海默病、亨廷顿病和血管性痴呆症。我们为这一探索性项目提出以下具体目标：1.评估祖利亚州痴呆症的社会影响。我们将在痴呆症患者的家人和照顾者以及初级保健卫生专业人员中进行定性的人种学研究，确定关于认知障碍、痴呆症、知识、疾病对家庭生活的影响、自尊、家庭认同、社会反应、获得卫生保健的机会和专业人员护理质量的信念。2.评估目前的资源和需要，并制定和启动一项满足这些需要的计划，以促进成功开展拟议的研究和能力建设。3.显示可行性并生成初步数据，以证明通过R01赠款机制提交合作研究的合理性，并确定最有希望取得进展的具体研究问题。我们将测试儿茶酚I-O-甲基转移酶(COMT)基因变异是否会影响分离皮质下白质高信号的委内瑞拉家庭的工作记忆和执行功能。将检查由基因变异、生活条件和环境暴露引起的差异。4.在终生促进大脑健康的背景下确定培训和其他能力建设机会。在规划期结束时，我们希望已经启动了初步研究，并组织、规划、准备和汇编了一份更全面的R01拨款申请，其中包括CU和Luz调查人员之间的合作，包括研究和能力建设。

DESCRIPTION (provided by applicant): We propose a collaborative effort between Columbia University (CU) and University of Zulia (LUZ), Maracaibo-Venezuela, to investigate the effects of life conditions and environmental exposures together with genetic factors upon the expression of specific cognitive abilities. We aim to strengthen the capacity of Venezuelan scientists to design and execute research centered on cognitive impairment from birth to advanced age, with emphasis in disorders common in the State of Zulia; including Alzheimer's disease, Huntington's disease and Vascular Dementia. We propose the following specific aims for this exploratory project: 1. To assess the social impact of dementias in the State of Zulia. We will conduct a qualitative ethnographic study among family and caregivers of demented patients, as well as among primary care health professionals, identifying beliefs about cognitive impairment, dementia, knowledge, impact of disease on family life, self esteem, family identity, social reactions, access to health care and quality of care by professionals. 2. To assess current resources and needs and develop and initiate a plan to address these needs to promote the successful conduct of the proposed research and capacity building. 3. To show feasibility and generate preliminary data to justify submission of collaborative research via an R01 grant mechanism and to identify specific research questions that show the greatest promise for advancement. We will test whether a catecoI-O-methyltransferase (COMT) gene variant affects working memory and executive function in Venezuelan families segregating subcortical white matter hyperintensities. Variance accounted for by the gene variant and life conditions and environmental exposures will be examined. 4. To identify training and other capacity-building opportunities in the context of brain health promotion throughout life. At the end of the planning period, we hope to have initiated preliminary studies and to have organized, planned, prepared and assembled an application for a more comprehensive R01 grant involving collaboration between CU and LUZ investigators incorporating both research and capacity building.