The Human Genome and Disease

Abstract

The exploration of the human genome yields new information about the structure and function of the genes of man, their evolutionary origin, the genomic endowment of Homo sapiens in relation to other organisms, the causes of diseases, and other subjects. Human genetics today derives important insights from the study of model organisms such as the mouse and rat, the fruit fly (Drosophila melanogaster), a nematode (Caenorhabditis elegans), yeast (Saccharomyces cerevisiae), many bacteria and their plasmids, and also plants. The complete DNA sequence of these organisms provides an understanding of the pathogenicity of microbial organisms, opens new ways to develop therapies and vaccines and to understand the functional consequences of mutations. Data on sequenced organisms are readily available for man (International Human Genome Sequencing Consortium 2001; Venter et al. 2001), mouse (draft of 96{\%} of the genome of the C57BL/6J mouse strain posted on 9 May, 2002 at Genbank (www.ncbi.nlm.nih.gov; also see Waterston 2002), Drosophila (Adams et al. 2000), C. elegans (The C. elegans Sequencing Consortium 1998), yeast (Goffeau et al. 1996), and microbes (Doolittle 2002); websites are included in the publications cited.