Cystic fibrosis: from the gene to the dream.
The author summarizes research on cystic fibrosis carried out since the discovery of the defective gene in 1989. As a result of this work, the molecular basis of the disease is known in considerable detail. As well, the nature of the functional defects in the cells of people with cystic fibrosis has been defined. Animal models have been developed by gene targeting; their study is leading to an understanding of the pathologic processes in the disease. Initial steps are being taken toward the development of gene therapy. The field is thus poised for major advances during the coming decade, at the end of which effective treatments may be available.
Research Institute, Hospital for Sick Children, Toronto, Ont. buchwald@sickkids.on.ca
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D000818:Animals; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000096:biosynthesis / Q000235:genetics; D006801:Humans
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator