Cystic fibrosis historical perspective
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
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Overview
Historical Perspective
in the late 1930s cystic fibrosis was first recognized as a disease. This term was used to describe the characteristic cyst formation and fibrosis observed in the pancreas.
In 1949, Lowe and colleagues theorized that CF must be caused by a defect in a single gene, based on the disorder’s autosomal recessive pattern of inheritance.
In 1989, the CFTR gene was discovered first.
In 1990, scientists successfully added cloned normal gene to Cystic Fibrosis cells in the laboratory, which corrected the chloride transportion. The gene therapy technique was then tried on a limited number of CF patients.[1][2]
References
- ↑ National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22183/
- ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.