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Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
9.9K
[Cystic fibrosis emerging therapies]
Dominika Nesteruk1, Katarzyna Wertheim-Tysarowska, Jerzy Bal
1Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211 Warszawa, Polska, dominika.nesteruk@imid.med.pl.
Developmental Period Medicine
|September 4, 2014
Summary
Cystic fibrosis (CF) treatments are advancing, targeting defective CFTR genes and proteins to combat lung disease. New therapies and gene therapy offer hope for improved outcomes in this common genetic disorder.
Area of Science:
- Genetics
- Pulmonology
- Pharmacology
Context:
- Cystic fibrosis (CF) is a common, recessively inherited monogenic disorder.
- It stems from mutations in the CFTR gene, leading to multi-organ disease, primarily affecting the lungs.
- High mortality is linked to progressive lung damage and respiratory failure.
Purpose:
- To review recent advancements in cystic fibrosis (CF) diagnosis and treatment.
- To discuss therapeutic strategies targeting CFTR gene and protein defects.
- To explore progress in preclinical and clinical phases of novel CF therapies.
Summary:
- Recent progress in CF treatment includes targeted therapies like VX-770 and PTC124, which modulate CFTR protein function or mRNA.
- Somatic gene therapy is being developed to enhance CFTR delivery and expression in respiratory cells.
- Current research focuses on addressing core symptoms and the genetic cause of CF.
Impact:
- Novel therapeutics offer genotype-specific treatments for cystic fibrosis patients.
- Advancements in gene therapy aim for more efficient and sustained correction of CFTR defects.
- The review highlights progress in both preclinical and clinical stages, paving the way for future CF management.
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