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All cells of the human body have the same DNA sequences (genes) that “code” for the body’s entire diversity of cell types, from blood to brain, liver, muscle and skin.  The differences between cell types are determined by which genes are active (switched on) and at what stage in each cell.  These genes are controlled by scattered DNA sequences called regulatory regions (or “On/Off switches”) and function differently in each cell type.  Changes (i.e., mutations) in the DNA sequence of an On/Off switch can lead to abnormal gene activity, which, in turn, can cause disease.

This project aimed to examine the mechanism of gene activity through the creation of a new computer software called OnTarget.  The software allows scientists to identify the On/Off switches in each cell type; predict the effect of mutations on their activity; and design sequences to turn a gene on or off for therapy.

This work advanced the training of highly qualified personnel and the development of gene therapy applications to improve human health.  Over the longer-term, the OnTarget project will strengthen Canadian bioinformatics for success in the fields of genome analysis and personalized medicine.