NEW DIAGNOSTIC APPROACHES IN LEUKODYSTROPHY

脑白质营养不良的新诊断方法

• 批准号: 7717194
• 负责人: Adeline Lucie Vanderver
• 金额: $ 0.27万
• 依托单位: CHILDREN'S RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-12-01 至 2008-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7717194
• 关键词: Arts; Biochemical; Biochemical Genetics; Biochemical Pathway; Biological Markers; Clinical; Computer Retrieval of Information on Scientific Projects Database; Diagnosis; Diagnostic Procedure; Disease; Functional disorder; Funding; Genetic; Genetic Transcription; Genetic screening method; Genome; Grant; Incidence; Institution; Investigation; Knowledge; Live Birth; Molecular; Molecular Profiling; Monitor; Patient Care; Patients; Physical Examination; Proteome; Proteomics; Recording of previous events; Research; Research Personnel; Resources; Source; Therapeutic; United States National Institutes of Health; White Matter Disease; comparative; improved; leukodystrophy; neuroimaging; novel diagnostics; tool; white matter

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of 1:5000 live births. A significant proportion of patients with white matter disease remain undiagnosed after conventional neuroimaging, biochemical, and genetic testing. This study aims to build molecular biochemical pathways of the leukodystrophies. Specific Aim 1. To collect detailed clinical characterizations, including histories, physical examinations, biochemical tests, genetic studies, neurophysiologic and neuroimaging studies in patients with leukodystrophies to better comprehensively characterize such patients and obtain comparative clinical profiles. Specific Aim II. To develop disease specific profiles and leukodystrophy associated biomarkers in patients with unclassified leukodystrophies through genome-wide expression profiling and proteomic approaches and compare proteome or transcription profiles to patients with known forms of leukodystrophies. Specific Aim III. To correlate comprehensive clinical characterizations of patients with unclassified leukodystrophies with state of the art diagnostic techniques to provide tools resulting in improved diagnosis, understanding of pathophysiology and therapeutic monitoring. Taken together, these investigations hope to provide fundamental knowledge improving the diagnosis and care of patients with unclassified leukodystrophies.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 据估计，遗传性白质疾病（脑白质营养不良）的发病率为 1:5000 活产儿。经过传统的神经影像学、生化和基因检测后，很大一部分白质疾病患者仍未得到诊断。本研究旨在建立脑白质营养不良的分子生化途径。 具体目标 1. 收集脑白质营养不良患者的详细临床特征，包括病史、体格检查、生化检测、遗传学研究、神经生理学和神经影像学研究，以更好地全面描述此类患者的特征并获得可比较的临床特征。 具体目标二。 通过全基因组表达谱和蛋白质组学方法，开发未分类脑白质营养不良患者的疾病特异性谱和脑白质营养不良相关生物标志物，并将蛋白质组或转录谱与已知形式的脑白质营养不良患者进行比较。 具体目标 III.将未分类脑白质营养不良患者的综合临床特征与最先进的诊断技术联系起来，以提供改进诊断、病理生理学理解和治疗监测的工具。 总而言之，这些研究希望提供基础知识，改善未分类脑白质营养不良患者的诊断和护理。