Introduction to Disease Proteomics

Characterization of the human genome has presented biomedical researchers with unprecedented opportunities for identifying the cellular processes that confer health and disease. We now know the identities of the nearly 35,000 genes of the human genome, 5,000 to 10,000 of which are typically expressed in a given cell. Looking ahead, the challenge for researchers is to understand the function of the proteins that are encoded by these genes in both normal and diseased cells. Such knowledge will provide important clues concerning the mechanisms of cellular function and dysfunction, possible molecular targets for therapeutic interventions, and risk factors for developing disease. For many diseases, this information will lead to the discovery of protein biomarkers that can be exploited for screening of individuals and populations for early detection of disease. Studies of the protein makeup of cells and tissues and of protein function in these systems together comprise the field of proteomics, which relies on the emergent technologies of mass spectrometry and bioinformatics to identify proteins and their biochemical reactions. Information derived from these studies can then be used to formulate specific hypotheses which form the basis of detailed studies of protein function and interactions that regulate protein activity.

Disease proteomics extends these proteomic technologies to studies of the changes in protein make-up and protein interactions that lead to the dysfunction that is characteristic of diseases such as cancer, cardiovascular diseases, and neurodegenerative diseases. Disease proteomics is an especially valuable approach to understanding why there is variability in the susceptibility to disease, including the roles of cultural diversity and environmental factors.

Academic medical centers are only just beginning to exploit the potential of disease proteomics to reveal the molecular basis of human diseases or its potential to identify new molecular targets that will be useful in the diagnosis, prevention or treatment of disease. A Human Proteomics Program is being established to provide UW Medical School scientists with essential new approaches for the study of human disease. Human proteomics research has excellent potential for improving the health of our citizens through early detection and treatment of disease and will provide a basis for assuring that they receive the most advanced medical care and up-to-date information regarding the basis for human health and disease.

Read More: Role of Mass Spectrometry