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Introduction and Why is it Important to Identify the Gene(s) That Cause a Disease, Such as the CF Gene?
Introduction
"It is with great optimism that the cystic fibrosis research field is now moving to an exciting phase, with a better understanding of the function of the cystic fibrosis gene and a new tool kit, including the prospect of cell therapy to implement better treatment."
Cystic fibrosis (CF) is a common autosomal recessive genetic disease that affects approximately one in 2500 newborns in Caucasian populations. Although the average life expectancy of the CF patient population has increased significantly due to improvements in antibiotic therapy, nutrition, physiotherapy and other clinical approaches to CF treatment, respiratory complications still remain a major cause of morbidity and mortality.
When the CF gene was identified and cloned in 1989, there were hopes that the gene itself could serve as the therapeutic agent to treat patients, as well as offering increased fundamental understanding of the pathophysiology of CF. Although there is no doubt that the identification of the CF gene has improved prenatal and patient diagnosis and allows carrier screening in relatives and the community, a cure for the disease seems as far away as ever. In this article, we highlight how genetic and genomic strategies will continue to play an important role in improving the diagnosis and treatment of CF and ultimately lead to more effective treatment for CF.
Why is it Important to Identify the Gene(s) That Cause a Disease, Such as the CF Gene?
The identification of genes that cause inherited disease enables the analysis of the role of the normal gene and the consequence of the loss of its function. This can in itself lead to improved diagnosis and better therapies for patients. It also enables the development of models (including animal models and cellular assays) that recapitulate aspects of disease pathology, and serve as tools to develop and test new therapies.
The gene that is mutated so as to cause CF codes for the CF transmembrane conductance regulator (CFTR). It may be hard for those who have come new into CF research during the past 30 years to realize that there was no consensus as to whether CF is caused by mutations in one gene or many, prior to the identification of CFTR by Lap-Chee Tsui and his colleagues in 1989. We now know that virtually every case of classical CF, whether severe or mild, is due to mutations in a single gene, and the variety of presentations is for the most part due to the fact that there are many different mutations in this one gene.
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