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.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 主要目标：1）利用系统方法对患者进行诊断评估，以区分PCD、变体CF和PHA。 2)识别致病基因突变。 3)确定鼻一氧化氮（NO）诊断PCD的敏感性和特异性。 次要目的：1）使用CF基金会支持的CF登记中的可比数据，比较这3种疾病（PCD、变异CF和PHA）中关键临床特征的患病率和年龄相关严重程度，以及与“经典”CF的比较。