Centre for Functional Genomics and Human Disease

Functional Genomics Technology

With the sequencing of the entire human and mouse genomes brings a new era to biomedical research in which gene identification/cloning will not be necessary. The challenge will be to identify the function of the products of the genes in vivo, the diseases in which each gene is involved, and the therapeutic benefit to be gained from this information. The ability to manipulate gene expression in the whole animal thus has a key role in the future of biomedicine. This new era of functional genomics will entail the integrated use of bioinformatic analyses, disease associations, gene knock-outs, mutants or overexpression, cellular and molecular mechanisms to gain insights into gene function. Already, the use of differential gene expression analyses and gene array technology, together with advancements in proteomics, are beginning to be used to analyse genetically modified mice to determine "upstream" and "downstream" factors involved in the function and mechanism of action of a particular gene product. This is an important step towards the discovery of new diagnostic tools or novel drugs for the treatment of disease.

Not only will knockout and transgenic technologies be important for biomedical research and to generate murine models of human genetic diseases, but elucidating the mechanisms by which we can mutate and manipulate expression of genes in vivo will also provide essential data which will form the basis of gene therapy in human disease.

Modern post-genomics medical research necessitates the examination of the consequences of genetic changes on the whole animal by the generation and study of genetically modified mouse models of disease (through gene targeting) and the examination of global changes in gene composition or expression in physiological and pathological states. Technologies are now available which allows us to collectively examine almost all of the known human and mouse genes in a single experiment. This technology known as DNA microarray analysis allows us to examine the expression profile of thousands of genes under different physiological and pathological conditions in a few days. By conventional means, this type of analysis would have taken several years. The technique of microarray analysis coupled with the ability to generate murine models of human genetic disease allows the modern research to investigate the genetic changes that occur in the generated pathology. The outcome of these experiments are the identification of genes that maybe involved in the progression of the disease. This capacity to identify potential disease causing genes can then be used to pick targets for rational therapeutic drug design.