The National Institute of Diabetes & Digestive & Kidney Diseases

Cystic Fibrosis

The Cystic Fibrosis Research Program supports investigator-initiated research grants encompassing both fundamental and clinical studies of the etiology, molecular pathogenesis, pathophysiology, diagnosis, and treatment of cystic fibrosis and its complications.

Particular areas of emphasis of the program include:

• Characterization of the cystic fibrosis gene, its mutations, and the molecular mechanisms by which mutations cause dysfunction 
• Studies of the cystic fibrosis transmembrane regulator (CFTR) protein encoded by the cystic fibrosis gene, including its processing, trafficking, and folding, and the mechanisms by which mutations alter CFTR trafficking and structure/function
• Elucidation of the pathways of electrolyte transport in affected epithelia and the relationship between CFTR and other epithelial ion channels 
• Elucidation of the potential roles of CFTR in transport of molecules other than chloride, post-translational processing of mucins and other proteins, exocytosis and recycling of cell membranes, subcellular organelle function, and other cellular processes 
• Studies of the relationship between genotype and phenotype in cystic fibrosis and identification of genetic or environmental factors which explain the variable clinical presentations and severity of disease
• Delineation of the mechanisms underlying the inflammation and infection characteristic of cystic fibrosis and how mutations in the cystic fibrosis gene and alterations in CFTR function result in inflammation and infection 
• Research on other clinical manifestations of cystic fibrosis, including the pathophysiologic mechanisms underlying malnutrition and growth failure, impaired fertility, liver disease, and overall physical and psychosocial development, and approaches to ameliorate the complications of cystic fibrosis
• Development of potential therapeutic approaches to modulating the transport defect in cystic fibrosis and to stabilize mutant CFTR and enhance its targeting and integration into the cell membrane 
• Development of safe and effective methods for gene therapy
• Development of animal or cell models useful for study of cystic fibrosis and its therapy
• Evaluation of therapeutic interventions in cystic fibrosis in clinical studies or animal models.

For further information, contact Dr. Catherine McKeon, Senior Advisor for Genetic Research.

Resources for Researchers Databases, Registries and Information Basic Research Networks Reagents Services Standardization Programs Tissues, Cells, Animals Useful Tools Clinical Research Clinical Research in Rare Diseases Search for Clinical Trials Centers Molecular Therapy and Cystic Fibrosis Centers - Overview & Map Related Study Sections Gene and Drug Delivery Systems Study Section [GDD] Gene Therapy and Inborn Errors [GTIE] Special Emphasis Panel See Also Genetics and Genomics Research at NIDDK Endocrine and Metabolic Diseases Health Information Medline Plus: Genes and Gene Therapy

Office of Rare Diseases Research and Clinical Trials Biennial and Annual Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2006 Funding Opportunities All NIDDK PAs, RFAs, and Notices Genetic Metabolic Diseases and Gene Therapy Research PAs General NIDDK PAs Funding for Special Communities Training and Careers Small Business Conferences Conference Grant Support Upcoming Past Genetic Metabolic Diseases and Gene Therapy Research Conference Reports NIDDK Staff Dr. Beena Akolkar, Immunopathogenesis and Genetics of Type 1 Diabetes Program Director Dr. Terry Bishop, Hematology Research Programs Director Dr. Olivier Blondel, Director, Endocrine Systems Biology Program Dr. Edward Doo, Director of the Liver Diseases Program Dr. Judith Fradkin, Director, Division of Diabetes, Endocrinology, and Metabolic Diseases Dr. Catherine McKeon, Senior Advisor for Genetic Research in Diabetes, Endocrinology and Metabolic Diseases Dr. Rebekah Rasooly, Deputy Director of the Division of Kidney, Urologic, and Hematologic Diseases Dr. Jose Serrano, Director of the Liver and Biliary Program; Director of the Pancreas Program Dr. Daniel Wright, Hematology Research Programs Director Related Organizations Cystic Fibrosis Foundation

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Page last updated: November 05, 2010