The Advances Of The Human Genome In The Pharmaceutical Industry

The acquisition of comprehensive knowledge of human gene functions in health and disease will come to be seen as a major scientific and cultural epoch in human history, said George Poste, chairman of R&D at SmithKline Beecham, during the Center for Medicines Research 11th annual lecture, held in London on June 25.

The human genome project began in 1990 and comprises the collective endeavors of academia and industry alike to: identify and sequence the full complement of human genes (thought to be between 80,000 and 100,000); to map their anatomical distribution and chromosomal location; to profile the diversity of genes in the human population; to define the patterns of gene expression from the embryo throughout the life span; and to learn about the gene's structural, functional and regulational changes, inherited or acquired, that are involved in disease onset and progression.

In order to ascertain these factors, genetic researchers must have a clear idea of what they are aiming for and can select from a "menu of opportunity" that is available to them in the field. The scope of research is infinite and is technically further complicated by the fact that within a cell tissue there are many unique genetic sequences that often overlap, and there also exist regions of "junk" DNA that, as far as we know, have no particular significance. Researchers must therefore study multiple numbers of genes in the tissue in order to be able to present accurate results. They work from a pedigree analysis to determine chromosome linkage. This leads to the sequencing of the gene and position cloning. Gene function can then be determined and correlated with the disease, and is followed by extensive gene analysis with the aim that, in comparison against the total population profile, a fingerprint for disease diagnosis can be established. This has already been accomplished for prostate cancer.