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
- Molecular Therapy and Cystic Fibrosis Centers - Overview & Map
Related Study Sections
Office of Rare Diseases
Funding for Special Communities
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
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Page last updated: November 05, 2010