RARE GENETIC DISORDERS OF THE AIRWAYS: DEVELOPMENT OF NOVEL SCREENING

罕见的气道遗传性疾病：新型筛查方法的开发

• 批准号: 7603579
• 负责人: Margaret Rosenfeld
• 金额: $ 0.04万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7603579
• 关键词: Chronic; Clinical; Colorado; Computer Retrieval of Information on Scientific Projects Database; Cystic Fibrosis; Development; Diagnosis; Diagnostic; Diagnostic tests; Disease; Evidence Based Medicine; Focus Groups; Funding; Grant; Hereditary Disease; Host Defense; Hypoaldosteronism; Impairment; Infection; Institution; Mucociliary Clearance; Mutation; North Carolina; Other Genetics; Patients; Primary Ciliary Dyskinesias; Purpose; Rare Diseases; Research; Research Personnel; Resources; Screening procedure; Sinus; Site; Source; Treatment Protocols; United States National Institutes of Health; Universities; Variant; Washington; clinical research site; novel

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. A consortium of geographically-dispersed clinical research sites has been established by investigators at the University of North Carolina, Chapel Hill, for the purpose of studying rare diseases of the airways, which involve impairment of mucociliary clearance from the airways. In addition to UNC, Chapel Hill, other sites are Washington University, St Louis; University of Colorado, Denver; and University of Washington, Seattle. Investigators at these sites will collaborate in diagnostic, genetic, and other studies in a focused group of patients, including those with the possible diagnosis of primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudo- hypoaldosteronism (PHA), reflecting genetic defects in airway host-defense, and typically result in chronic infection of the airways. Patients with these disorders of the conducting airways and sinuses often have delayed or misdiagnoses because of lack of reliable diagnostic tests. Sub-optimal management of their clinical disease is also an issue because the cause of these disorders is not well-defined, and treatment regimens are typically not driven by evidence-based medicine.

这个子项目是许多利用 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。 位于查佩尔山的北卡罗来纳州大学的研究者建立了一个地理上分散的临床研究中心联盟，目的是研究涉及气道粘膜纤毛清除障碍的气道罕见疾病。除了查佩尔山的华盛顿大学外，其他地点还有圣刘易斯的华盛顿大学、丹佛的科罗拉多大学和西雅图的华盛顿大学。这些研究中心的研究者将在重点患者组中合作进行诊断、遗传和其他研究，包括可能诊断为原发性纤毛运动障碍（PCD）、变异性囊性纤维化（CF）和假性醛固酮减少症（PHA）的患者，这些疾病反映了气道宿主防御的遗传缺陷，通常导致气道慢性感染。由于缺乏可靠的诊断测试，患有这些传导性气道和鼻窦疾病的患者通常会延误或误诊。对他们的临床疾病的次优管理也是一个问题，因为这些疾病的原因还没有明确定义，治疗方案通常不是由循证医学驱动的。