Clinically discrete diseases can result from alterations in gene pathways, with discrete patterns of gene expression. Successful treatment requires early, accurate diagnosis of disease, or disease sub-type. Furthermore, diseases often arise from different molecular pathology, representing molecular sub-types of disease which require targeted treatment.

TopMD was created by a team of scientists and mathematicians at the University of Southampton to dramatically improve precision and accuracy of disease diagnosis. TopMD promises to revolutionise healthcare, by allowing high resolution investigation of molecular mechanisms underlying disease, and therefore enabling development of targeted treatments for application in stratified medicine. TopMD is able to precisely diagnose molecular sub-types of disease using standardised gene expression arrays, allowing targeted treatment of patients according to deep knowledge of the person-specific molecular pathology.

The advent of genomics and other high throughput molecular phenotyping techniques enables comprehensive molecular fingerprinting of patients. Global gene expression profiling can be done using low cost, standardised techniques such as microarray or RNAseq. The shape (or topology) of gene expression is a fingerprint of a disease state which represents the modulation of gene pathways associated with disease states. Previously, pathway analysis of gene expression data required the reduction of a whole genome gene expression profile to a small subset of genes (typically <5%) selected by the highest fold change relative to a control sample. This type of pathway analysis matched the identity of genes in this reduced dataset to genes of well-characterised gene pathways. TopMD analyses the complete gene expression of a patient, giving unprecedented resolution to understanding disease pathology, and allowing precise diagnosis of disease state.