Physiogenomic Arrays for Clinical Neuropsychiatry

描述（由申请人提供）：神经精神和神经退行性疾病，如精神分裂症、阿尔茨海默病和抑郁症是具有多个贡献基因的遗传复杂疾病。迫切需要创新技术来研究这些疾病的多基因病因，以便早期诊断，预防和治疗。Genomas PhysioGenomicsTM技术的进步使我们能够开发与疾病相关的DMA阵列。这些产品将使研究人员能够将神经精神内表型（例如，大脑的结构和功能成像）与来自数百个基因的遗传信息，包括单核苷酸多态性（SNP）和单倍型，以建立疾病的多基因DMA标记。Genomas通过Illumina BeadArrayTM技术开发了并行处理数千种遗传标记的独特能力。数百个基因可以同时进行基因分型和单倍型，并纳入疾病和药理学反应的生理基因组学模型。该项目的目标是开发新的遗传分析工具，NeuroPsych基因阵列产品，同时对来自1,000个与神经精神病学和神经变性相关的候选基因的6,144个经验证的SNP进行基因分型。与戈弗雷皮尔森博士合作，产品的性能将在哈特福德医院生活研究所的几个与精神分裂症、阿尔茨海默病和抑郁症相关的临床人群中进行测试。受试者之前已经通过脑功能成像进行了检查，并且除了精神病学临床评估之外，还被诊断为明确定义的疾病内表型。临床试验的目的是分析可能与内表型相关的遗传标记。NeuroPsych基因阵列产品将在基础、临床和流行病学研究以及制药、诊断和医学成像行业中获得商业应用。根据PA-04-086“大脑和行为的高投入工具-SBIR”，该计划被提议作为一项为期两年的特别第一阶段赠款。“该计划将开发NeuroPsych基因阵列产品，作为系统了解神经精神和神经退行性疾病的新工具，从而实现早期诊断和个性化治疗。

DESCRIPTION (provided by applicant): Neuropsychiatric and neurodegenerative disorders such as schizophrenia, Alzheimer's disease, and depression are genetically complex diseases with multiple contributing genes. There is an urgent need for innovative technologies to study the multi-gene etiology of these disorders for early diagnosis, prevention, and treatment. Advances in the Genomas PhysioGenomicsTM technology allow us to develop disease related DMA arrays. These products will enable researchers to couple neuropsychiatric endophenotypes (e.g., structural and functional imaging of the brain) with genetic information from hundreds of genes, including single nucleotide polymorphisms (SNPs) and haplotypes, to build multi-gene DMA markers of disease. Genomas has developed unique capabilities in parallel processing of thousands of genetic markers through the Illumina BeadArrayTM technology. Hundreds of genes can be genotyped and haplotyped at once and incorporated into physiogenomic models of disease and pharmacological response. The goal of this project is to develop novel genetic analysis tools, the NeuroPsych Gene Array products, to simultaneously genotype 6,144 validated SNPs stemming from 1,000 candidate genes related to neuropsychiatry and neurodegeneration. In collaboration with Dr. Godfrey Pearlson, the performance of the products will be tested on several clinical populations related to schizophrenia, Alzheimer's Disease and depression from well characterized patient cohorts from the Institute of Living at Hartford Hospital. The subjects have been previously examined via functional imaging of the brain and diagnosed into well-defined endophenotypes of disease in addition to psychiatric clinical evaluation. The aim of the clinical pilot is the analysis of genetic markers potentially associated with endophenotypes. The NeuroPsych Gene Array products will find commercial application in basic, clinical and epidemiological research, and in the pharmaceutical, diagnostic and medical imaging industries. This program is proposed as a special two-year Phase I grant, under PA-04-086, "High Throughput Tools for Brain and Behavior-SBIR." The program will develop NeuroPsych Gene Array products as a new tool for systems understanding of neuropsychiatric and neurodegenerative diseases leading to early diagnosis and personalized therapy.