Correlation of Allelic Variations with Gene Function Alterations in Schizophrenia

描述(由申请者提供)：这个指导职业发展奖提案的目标是为Consuelo Walss-Bass博士提供培训，使其成为精神障碍生物学的独立研究员。这项培训建立在候选人在识别与精神障碍相关的基因变异方面的经验基础上，并将这项工作扩展到这些变异与功能的相关性。培训计划提供个人指导和结构化教学。罗宾·利奇博士是一位分子生物学家和遗传学专家，他将提供分子生物学方法学方面的培训和专业知识，并在所有研究目的的应用方面提供帮助。迈克尔·埃斯卡米拉博士是一位绘制精神分裂症和双相情感障碍相关基因图谱的专家，尤其是在拉丁裔人群中，他将在分子生物学发现与临床表型之间的联系方面提供指导。该项目建议为申请者提供分子生物学方法论以及功能基因组学和蛋白质组学技术方面的培训，以将已识别的基因变异与细胞功能的变化联系起来。这项拟议的研究将重点放在neuRegin 1基因内识别的基因变异上，以学习适用于研究与任何复杂疾病相关的其他变异的技术。等位基因变异与功能的相关性是理解易感基因在精神疾病发展中所起的生物学作用的最终目标。这项拟议的研究将为神经调节蛋白1基因的表征提供重要贡献，并可能揭示神经调节蛋白1在精神分裂症病理中的生物学基础。

DESCRIPTION (provided by applicant): The goal of this mentored Career Development Award proposal is to provide Consuelo Walss-Bass, Ph.D. the training to become an independent investigator in the biology of psychiatric disorders. This training builds upon the candidates experience in identification of gene variants associated with psychiatric disorders and extends this work to correlation of these variations with functionality. The training plan provides individual mentorship and structured didactics. Dr. Robin Leach, a molecular biologist and genetics expert, will provide training and expertise in molecular biology methodologies and assistance in application of all research aims. Dr. Michael Escamilla, an expert in mapping of genes involved in schizophrenia and bipolar disorder, particularly in Latino populations, will provide mentorship in relating molecular biology findings to clinical phenotypes. This project proposes to provide the applicant with training in molecular biology methodology, as well as functional genomics and proteomics techniques to correlate identified genetic variations with changes in cellular functions. The proposed research will focus on gene variants, identified within the neuregulin 1 gene, to learn techniques that will be applicable to the study of other variations identified to be associated with any complex disorder. Correlation of allelic variations with functionality is the final objective towards understanding the biological roles that susceptibility genes play in development of psychiatric disorders. The proposed research will provide a significant contribution to the characterization of the neuregulin 1 gene and may shed light as to the biological underpinnings of neuregulin 1 in schizophrenia pathology.