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苏利亚大学（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设计和执行以从出生到老年认知障碍为中心的研究的能力，重点是苏利亚州常见的疾病；包括阿尔茨海默病、亨廷顿氏病和血管性痴呆。对于本次探索性项目，我们提出以下具体目标：评估痴呆症在苏利亚州的社会影响。我们将在痴呆症患者的家庭和照顾者以及初级保健保健专业人员中进行一项定性人种志研究，确定有关认知障碍、痴呆症、知识、疾病对家庭生活的影响、自尊、家庭身份、社会反应、获得保健和专业人员护理质量的信念。2. 评估目前的资源和需求，并制定和启动一项计划来解决这些需求，以促进拟议的研究和能力建设的成功进行。3. 展示可行性并生成初步数据，以证明通过R01资助机制提交合作研究的合理性，并确定具有最大发展前景的具体研究问题。我们将测试catecoi - o -甲基转移酶（COMT）基因变异是否会影响委内瑞拉皮质下白质高信号分离家庭的工作记忆和执行功能。由基因变异、生活条件和环境暴露造成的差异将被检查。4. 确定终身促进大脑健康的培训和其他能力建设机会。在计划期结束时，我们希望启动初步研究，并组织、计划、准备和汇集一份更全面的R01拨款申请，包括科罗拉多大学和LUZ研究人员之间的合作，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.