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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

All Diseases > Cystic Fibrosis

Cystic Fibrosis (CF)

Disease Category: Genetic Mucociliary Disorders

An inherited disorder caused by dysfunction in the CFTR protein leading to improper regulation of sodium and chloride transport in cells. In this disorder, exocrine glands (which secrete substances via ducts into tissues) produce abnormally thick mucus which obstructs multiple organ systems, especially the lungs, pancreas, and intestines. Common symptoms include difficulty breathing, persistent cough, lung infections, poor digestion, malnutrition, and slowed growth.

Research groups studying this disease

Genetic Mucociliary Disorders
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Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)