Precise molecular lesions responsible for ~5,000 rare genetic diseases that afflict Canadians. Unfortunately, most of these diseases have no treatments, about 30% of patients die in childhood, and it is nearly impossible to develop disease-specific treatments because of the small number of patients for each disease and the high cost of developing new drugs. About 10% of disease-causing mutations are nonsense mutations that introduce a premature termination codon (PTC). Compounds that enable translational bypass of PTC, called PTC readthrough, offer the possibility of using the same treatment for large numbers of patients across multiple diseases. The group discovered five classes of compounds that induce PTC readthrough more efficiently than current drugs.
The goal of this proposal is to explore the therapeutic potential of these chemicals for treatment of inherited genetic diseases by testing them on patient-derived cell lines and in an animal model. These experiments will provide the proof of concept data necessary to extend IP and enable the creation of a start-up company to develop them for the treatment of multiple genetic disorders.