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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Milestones in cystic fibrosis
1Paediatric Genetics Unit, Royal Manchester Children's Hospital, University of Manchester Medical School, UK.
British Medical Bulletin
|October 1, 1992
Summary
Cystic Fibrosis (CF) research has advanced significantly, identifying chloride transport defects and the CFTR gene. This progress enables prenatal diagnosis and brings gene therapy closer for CF patients.
Area of Science:
- Medical research
- Genetics
- Molecular biology
Background:
- Cystic Fibrosis (CF) is a genetic disorder with a complex history of medical understanding.
- Early 20th-century milestones included clinical descriptions and understanding its inheritance pattern.
Observation:
- Sweat gland microdissection revealed a primary defect in chloride transport.
- The gene responsible for CF was located on chromosome 7.
Findings:
- The cystic fibrosis transmembrane conductance regulator (CFTR) gene and its Delta F508 mutation were identified in 1989.
- Over 150 additional CFTR mutations have been discovered globally.
- CFTR functions as a chloride channel, confirmed by its incorporation into insect cells.
Implications:
- Gene mapping facilitates prenatal diagnosis and carrier screening.
- Gene therapy approaches using CFTR show promise for correcting cellular defects in airway cells.
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