The Human Genome and the Medicine

Overview

Recent publication of the working draft of the human genome and its first analyses revealed several surprisingfindings. The human genome contains only about 42 000 genes, contrary to previous estimates of about 100 000.Comparison with other genomes suggests that the complexity of an organism neednot result from increasing genenumber, but it can be based on regulatory mechanisms associated with alternative gene expression and on complexinteractions of genes and/or their protein products. The progress in genomics and related modern disciplines isinfluencing substantially the biomedical research and the medicine itself, where the main focus shifts towardsmultifactorial diseases. The new knowledge will lead to much more effective diagnosis, exact prognosis of the diseasecourse and of individual drug response, to the targeted therapy using new drugs and gene therapy, and mainly towardstargeted prevention based on the detailed knowledge of individual disease predisposition.

Key words:
Human Genome Project, DNA sequencing, gene expression, genomics, individualised medicine.