Genomics has provided a vast amount of information forming a basis to link genetic variations with diseases. It is now recognised, however, that there are a number of reasons why gene sequence information and the pattern of gene activity in a cell do not provide a complete and accurate profile of a protein's abundance or its final structure and state of activity.

After transcription from DNA to RNA, the gene transcript can be spliced in different ways prior to translation into protein. Following translation, most proteins are chemically changed through post-translational modification, mainly through the addition of carbohydrate and phosphate groups. Such modification plays a vital role in modulating the function of many proteins but is not directly coded by genes. As a consequence, the information from a single gene may encode many different proteins, and that is before they undergo post translational modifications. It is clear from a growing number of data that genomic information very often does not provide an accurate profile of protein abundance, structure and activity.

Since it is proteins and, to a much lesser extent, other types of biological molecules that are directly involved in both normal and disease-associated biochemical processes, a more complete understanding of disease may be gained by looking directly at the proteins present within a diseased cell or tissue, and this is achieved through the proteome and proteomics.

Proteomics

Following the release of the Human Genome Sequence data in 2004, humans are considered to have 19,599 genes encoding proteins. Alternative RNA splicing and post-translational modification may result in 1 million or more proteins or protein fragments. As a consequence, the proteome is far more complex than the genome.

Proteomics is the scientific discipline which studies proteins and searches for proteins that are associated with a disease by means of their altered levels of expression and/or post-translational modification between control and disease states. It enables correlations to be drawn between the range of proteins produced by a cell or tissue and the initiation or progression of a disease state and the effect of therapy.

Proteome research permits the discovery of new protein markers for diagnostic purposes and of novel molecular targets for drug discovery.

The abundance of information provided by proteome research is entirely complementary, with the genetic information being generated from genomics. Proteomics will make a key contribution to the development of functional genomics. The combination of proteomics and genomics will play a major role in biomedical research and will have a significant impact on the development of future generations of diagnostic and therapeutic products.

Proteome Sciences, using its ProteoSHOP® technology platform, is ideally placed to accelerate the discovery of differential protein expression in disease and to exploit value from its application in functional genomics through strategic alliances and out-licensing.