Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Idiopathic bronchiectasis
Idiopathic bronchiectasis (IB)
Disease Category: Genetic Mucociliary Disorders
A progressive disorder in which the bronchi (air passages within the lungs that diverge from the windpipe) are permanently dilated (enlarged) and irreversibly scarred. This occurs without a known underlying cause such as recurrent infections, inflammation, aspiration, immunodeficiencies, ciliary abnormalities, or genetic mutations. Symptoms include chronic coughing, hemoptysis (coughing up blood), weight loss, chest pain or tightness, dyspnea (shortness of breath), wheezing, nail clubbing, and fatigue.
Research groups studying this disease
Genetic Mucociliary Disorders
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
Recruiting
5906: Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
A collaboration between pulmonologists and immunologists across the consortium, the project will systematically characterize the clinical phenotype and laboratory profile of patients with chronic suppurative respiratory diseases that are typically referred to pediatric and adult pulmonologists. A primary goal of this project is to identify the genetic basis of suppurative respiratory disease, including those with primary ciliary dyskinesia, primary immunodeficiencies, and other genetic disorders that interfere with airway defenses in patients without a confirmed genetic cause for their disease. This one-visit study includes a comprehensive medical history, physical exam, spirometry, nasal nitric oxide measurements, laboratory testing for genetics and immunologic evaluation, and a chest CT.