Recent advances in cystic fibrosis research
Tizzano, E.F.; Buchwald, M.
Journal of Pediatrics 122(6): 985-988
1993
ISSN/ISBN: 0022-3476 PMID: 8501582 Document Number: 415191
After the discovery of the gene, the next major landmark will be the elucidation of the basic defect of the disorder, which should lead to rational treatments. The accumulating knowledge of mutations and phenotypes allows more accurate testing and screening in selected populations. Considerable information is now available both on the pattern of gene and protein expression in the tissues involved in the disease and on the complex regulation and function of CFTR. In addition, an animal model with which to test therapeutic strategies has become available. Finally, two potential ways to cure the disease have emerged: that which exploits our knowledge of the normal and the mutant protein and their function, and that based on gene therapy. The latter approach is probably beginning to be tested on small groups of patients, and proof of its effectiveness is eagerly awaited.