Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 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 their specialists through their web form.
All Diseases > Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD)
Disease Category: Bronchiectasis, Genetic Mucociliary Disorders
Primary ciliary dyskinesia is an inherited disorder that affects the tiny hair-like structures along the surface of many types of cells, particularly those of the respiratory tract, where they are responsible for transporting mucus up and out of the lungs and sinuses. In PCD, the cilia are abnormal and don't move correctly. People with this disorder cannot clear this mucus, which ends up plugging the airways and sinuses, resulting in inflammation, repeated infections, and progressive and debilitating ear, sinus, and lung disease. These same cilia are also involved with the establishment of correct organ orientation during fetal development. These cilia are also involved in how the organs form and develop; many people with PCD may have abnormal placement of the organs in the body. People with PCD also commonly have fertility issues affecting both men and women. PCD has been linked to genetic changes in over 60 different genes, and is usually inherited in an autosomal recessive pattern in families.
Research groups studying this disease
Bronchiectasis
Rare Bronchiectatic Diseases Consortium (RBDC)
Primary Ciliary Dyskinesia Foundation
Supports, educates, and empowers individuals and families affected by primary ciliary dyskinesia while driving research, awareness, and improved clinical care to advance better lives and better outcomes.
Immune Deficiency Foundation
Supports, educates, and empowers people affected by primary immunodeficiency while advancing diagnosis, treatment, and quality of life through advocacy, community, and research.
COPD Foundation
Advances, supports, and empowers people affected by COPD, bronchiectasis, and NTM lung disease while driving research, education, and advocacy to improve lung health and quality of life.