Exploring the potential of chemical suppressors of nonsense mutations for treatment of multiple genetic disorders

Over 5000 rare genetic diseases collectively affect 1 in 12 Canadians. For these disorders about 10% of patients share a common mutation type that introduces a premature termination codon (PTC) in the gene and results in truncated and non-functional protein. The previously found PTC suppressors have limited effect or unacceptable side effects. The goal of my project is to use a new approach to discover novel chemicals that suppress PTC with therapeutic potential for multiple genetic disorders. I will test over 300,000 chemicals in a yeast-based screening assay to detect the few that can act as PTC suppressors. I will test the activity of these chemicals in cells derived from patients with various genetic disorders and bearing PTC. Finally I will elucidate the mechanism of action of the active compounds. The screening section of this proposal will be performed in collaboration with the Centre for Drug Research and Development (CDRD).

Faculty Supervisor:

Dr. Michel Roberge


Alireza Baradaran-Heravi


Centre for Drug Research and Development


Biochemistry / Molecular biology




University of British Columbia



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