Recent advances in genetics

The science of genetics has been revolutionized during the past 4 decades, most notably the discovery of the structure of DNA, and the advent of recombinant DNA technology. The Human Genome Project, an international effort to map and eventually sequence the entire human genome, promises to revolutionize human genetics once again, with significant impact on medical diagnosis and therapy, as well as intellectual approaches to biological science. Recent advances in the technology of molecular genetics pave the way for the construction of complete clone maps of chromosomes or entire genomes which may be arrayed in high density clone collections, thus rendering obsolete molecular cloning as we know it. This approach to the analysis of entire genomes rather than individual genes will allow a more rapid and direct approach to the definition of the human genotype, and the characterization of phenotypes associated with human genetic diseases. The localization and cloning of many human-disease genes and the subsequent molecular analysis of human genetic diseases, including hereditary epilepsies, would thus become a relatively simple and almost routine task.