The Genome A New Archetype For Understanding Disease

The word genome broadly defines the totality of genes and DNA sequences existing in the cell nucleus. Health-related biotechnology research is gradually converging upon the restricted belief that the genome determines the form, development, chemical composition and all functions in an organism, be it a micro-organism or a higher organism.

This reductionist approach is embodied in much biomedical research and in a large number of health-related industrial biotechnology R&D projects, and science is ultimately broadening the knowledge of the genetic bases of human health and disease and of basic life functions, including development.

Nowadays these ideas are motivating the expanding employment of genomic and complementary DNA (cDNA) sequencing techniques. Powerful computers and advanced robotics have improved these procedures, which are now rapidly yielding considerable amounts of information on large segments of expressed genes, which are valuable for genes' complete identification. Thanks to these research efforts an authentic genomics industry has been fostered, including the manufacturing of automated devices for DNA sequencing and cDNA libraries. At the present time, databases containing mainly expressed tagged sequences (ETS)—short cDNA pieces—as well as the DNA sequence of entire genes have become priceless for pharmaceutical research. It can be said that the core process of drug discovery is being redirected by this new archetype for understanding disease.

Nevertheless, determining biological function for a particular sequence is by far the most important and difficult step. This process requires straightforward, increasingly mechanical, analysis of private or public database information and specific experiments that are individually tailored to the particular gene. It is a major enterprise with an unknown probability of success. Understanding ofbiological function and the use of genes and gene products in the diagnostics and treatment of human disease remains a challenge needing great creativity (Caskey et al, 1995).

This huge undertaking has introduced a new information-intensive environment for molecular medical research, with scientists scanning the gene digital libraries and selectively tackling, by molecular pharmacological means, biological targets, relevant for a given patho-physiological process. This new framework requires the interpretation of the disease phenomenon as an information disturbance—a deficit, a defect, a redundancy or a regulatory disorder—occurring at the genetic level (Drews, 1996).

Appropriate for this new archetype for understanding disease, the corresponding central purpose of medical diagnostics becomes to depict particular information states. Following the new canon, the therapeutic act experiments with changes, its task progressively becoming to repair an information disturbance (Drews, 1996, p.23-24). The potential therapeutic applications of diverse human cells transformed into tissue cultures are crucial for the biotechnology industry.

Still, it remains to be seen how effective this information-strategy will be at generating new clinically active agents (Weinsteim et al, 1997). Nevertheless, it already became invaluable to health-related biotechnology industry.

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