Finding Autism Genes by Genomic Copy Number Analysis

自闭症是一种可能由遗传易感性和环境相互作用引起的疾病。 触发在发展的敏感时期结合在一起，从而导致已知的行为谱 自闭症谱系障碍。尽管对这种疾病的根本原因进行了广泛的研究，但 其分子起源、基因表达、影响神经通路和影响认知之间的联系 行为功能仍不清楚。我们的提案提供了新的和独特的方法来澄清 自闭症的这些组成部分之间的关系。我们的首要目标是同时接近 自闭症问题从几个新的和不同的观点来看，得到了一个方案的支持 一种凝聚力，迫使每个视角密切地告知其他视角。共同的主题是 连接建议的转化性自闭症研究计划(TARP)中的所有建议实验 影响基因表达的生物学和生化功能的鉴定 神经通路是开发自闭症有效治疗方法的关键。 因此，我们的研究目标跨越了广泛的调查，包括对改变基因的研究。 可能允许早期识别受影响或高危儿童的表达(TARP项目1)，基因复制 数字分析(TARP项目2)，研究和验证潜在的分子机制 自闭症(TARP项目3)，在我们研究视觉处理能力时对大脑进行成像(特别关注 面部处理)(问题资产救助计划项目4)，以及测试良好控制和标准化的治疗方案 在基因表达或神经功能改变的背景下，TARP项目#5)。五个项目中的每一个 由三个核心支持的这项建议将提供对领域特定元素的答案 自闭症。总体而言，这些项目将提供分子、遗传、认知和 自闭症的行为成分，我们预计这些领域之间的关系将成熟 通过发现的过程。

Autism is a disorder that is likely caused by the interaction of genetic predispositions and environmental triggers that coalesce during a sensitive period of development to lead to the spectrum of behaviors known Autism Spectrum Disorder. Despite extensive research into the underlying causes of this disorder, the linkage between its molecular origins, gene expression, affected neural pathways, and impacted cognitive and behavioral functions remains unclear. Our proposal offers new and distinct approaches to elucidating the relations among these components of autism. Our overarching objective is to simultaneously approach the problem of autism from several new and distinct points of view, supported by a programmatic cohesiveness that compels each perspective to intimately inform the others. The common theme that connects all of the proposed experiments in the proposed TranslationalAutism Research Program (TARP) is that the identification of the biological and biochemical functions influencing gene expression in affected neural pathways is the key to developing effective therapeutic treatments for autism. Our research objectives thus span a broad inquiry, encompassing the study of altered gene expression that may permit early identification of affected or at-risk children (TARP Projectl), gene copy number analyses (TARP Project #2), the study and validation of molecular mechanisms underlying the autism (TARP Project # 3), imaging the brain as we study visual processing abilities (focusing specifically on face processing) (TARP project #4), and the testing of well controlled and standardized treatment regimens within the context of altered gene expression or neural function TARP Project #5). Each of the five Projects comprising this proposal, supported by three Cores, will provide answers to a domain-specific element of the ASDs. In aggregate, these Projects will provide the links between the molecular, genetic, cognitive, and behavioral components of autism, and we anticipate that the relations among these areas will mature through the process of discovery.