Using Genes to Redefine Disease

Dr. Atul Butte of Stanford University is at the forefront of the nascent field of translational bioinformatics—a field that seeks to create new diagnostics and therapeutics from genome-era information and data. Here he highlights how new uses for publicly available data have enabled us to ask new questions, including rethinking the nature of disease. Dr. Butte gathers this data on gene activity for scores of diseases. He is looking not at the symptoms or physiological measurements of disease, but at their genetic underpinnings. He performs statistical analyses to map disease based on similarities in their patterns of gene activity. Dr. Butte is able to show how using genes to redefine disease enables the discovery of new causes for disease, suggests novel roles for drugs in the treatment of disease, and, for the first time, allows us to probe the inner commonality across diseases that previously seemed dissimilar.