RARE GENETIC DISORDERS OF THE AIRWAYS

罕见的气道遗传性疾病

• 批准号: 7716868
• 负责人: Michael R Knowles
• 金额: $ 0.86万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-02 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7716868
• 关键词: Classification; Clinical; Computer Retrieval of Information on Scientific Projects Database; Data; Diagnosis; Diagnostic; Disease; Evaluation; Foundations; Funding; Genes; Grant; Hereditary Disease; Institution; Nitric Oxide; Nose; Patients; Phytohemagglutinins; Prevalence; Registries; Research; Research Personnel; Resources; Sensitivity and Specificity; Severities; Source; United States National Institutes of Health; Variant; age related; disease-causing mutation

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. Primary Objecttives: 1) Utilize a systematic approach to the diagnostic evaluation of patients in order to distinguish between PCD, variant CF, and PHA. 2) Identify disease-causing mutation in genes. 3) Define the sensitivity and specificity of nasal nitric oxide (NO) for the diagnosis of PCD. Secondary Objective: 1) Compare prevalence and age-related severity of key clinical features among these 3 disorders (PCD, variant CF, and PHA), as well as comparison to "classic" CF, using comparable data in the CF Foundation-supported CF Registry.

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。 主要目标： 1) 利用系统方法对患者进行诊断评估，以区分 PCD、变异型 CF 和 PHA。 2) 识别致病基因突变。 3) 定义鼻一氧化氮（NO）诊断 PCD 的敏感性和特异性。 次要目标：1) 使用 CF 基金会支持的 CF 登记处的可比数据，比较这 3 种疾病（PCD、变异型 CF 和 PHA）的患病率和关键临床特征的年龄相关严重程度，并与“经典”CF 进行比较。