Human Gene Therapy

Human Gene Therapy

Deoxyribonucleic acid (DNA) was discovered in 1944 by Avery and colleagues. Avery identified DNA as the primary genetic material. Watson and Crick later discovered the double helix structure of DNA. Leder and co-workers deciphered the triple nucleotide code that designated the amino acids from which proteins were built. The science of molecular biology was born (Sokol, Gewirtz, 1996). In 1990 a four year old girl who was suffering from severe combined immunodeficiency (SCID) was the first to undergo gene therapy. White blood cells were removed from the girl and the cells were inserted with normal copies of the defective gene and returned into the girls circulation. Her condition improved with four treatments and follow-up treatments (Anderson, 1995). Cystic fibrosis (CF), the most common fatal genetic disease among Caucasians in the United States, afflicts about 30,000 people worldwide. The faulty gene, CFTR, transfers salts across cell membranes, which causes mucus buildup in many tissues, particularly in the lungs. Infections lead to early death, usually by age 30. Cystic fibrosis currently has no effective treatment. Since the cystic fibrosis gene was cloned in 1989 this has led researchers to look for treatments through gene therapy ( Stanford, 1996). CF appears to be suitable for treatment by gene therapy:

It is a monogenic, recessive disorder;

The function of the CFTR gene product is known, facilitating measurement of gene transfer;

The principal target cells, the airway epithelia, are accessible by minimally invasive procedures;

Several transgenic mouse models for developing and testing procedures prior to clinical evaluation are available;

here is a relatively large cohort of patients wil...

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Nichols, E. K. Human Gene Therapy. 162-164. (Harvard University Press, 1988).

Schmeck, H. 1991. The future of genetic research. Howard Hughes Medical Institute. http://www.mit.edu:8001/afs/athena/course/other/esgbio/www/mg/future.html.

Sokol, D. L., A. M. Gewirtz. 1996. Gen therapy: basic concepts and recent advances. Critical Reviews in Eukaryotic Gene Expression, 6(1):29-57.

Walters, L. 1996. The Ethics of Human Gene Therapy. Nature 225-227.

Gene Therapy for Human patients Information for the General Public. 1990 Department of Health and Human Services. Public health Service National Institutes of Health.

Genzyme, http://www.genzyme.com/company/lines/rdgt/welcome.htm.

Spector, R.; M. A. Malone. 1996. Stanford University Medical Center Office of communications. http://www.med.stanford.edu/center/Communications/Pressrel/October96/cfgene.html.