Inherited diseases, gene therapy

Although gene therapy is a promising treatment option for a number of diseases (including inherited disorders, some types of cancer, and certain viral infections), the technique remains risky and is still under study to make sure that it will be safe and effective. Gene therapy is currently only being tested for the treatment of diseases that have no other cures. 

The first gene therapy trial was conducted in September 1990. A 4-year-old girl with SCID (an inherited immune disorder disease, otherwise known as the bubble boy syndrome) was treated in Cleveland, Ohio. She is doing well some 10 years after the treatment. A second girl with the same disorder underwent gene therapy and she too continues to do well. 

Gene therapy is a long-established concept, described in 1970 as the use of recombinant DNA for the treatment or cure of inherited disease in man (1). In effect, the pathology of an inherited disorder can be alleviated by the expression of an introduced gene to compensate for the defective gene product. 

Gene therapy—Inserting genes into cells in an effort to treat inherited diseases or cancer. 

Pioneering studies have demonstrated the potential of gene therapy for the treatment of inherited hematopoietic diseases [440300], and particularly for ADA-SCID [470017], [470024], [666662], [666664], [666665]. However, vector design, gene transfer protocols and inadequate engraftment and expansion of genetically engineered cells limited the success of earlier studies [206054], [657269], [657273], [668669]. 

This is an inherited disease whose molecnlar mechanism has been elucidated in the last few years by locating and isolating the defective gene responsible for the disease (Hooper, 1989). Understanding the fnnction and the mechanism of action of the protein by expression studies and electrophysiology combined with the definition of the nature of the defect in the disease state has provided novel avenues for the therapy of CF (Widdicombe and Wine, 1991 Tsui and Bnchwald, 1991 Collins, 1992). 

There are also very rare recessive inherited diseases that result from defects in the biosynthesis of molybdenum cofactor in most cases they result in early childhood death, hirst symptoms are failure to thrive and seizures in later stages lens dislocations are noted together with cerebral atrophy. Disease-causing mutations have been located, and the possibility of gene therapy is being investigated." ... 

Driskell RA, EngeUiardt JE Current status of gene therapy for inherited lung diseases. Annu Rev Physiol 2003 65 585-612. 

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