Funding outcome

Duchenne muscular dystrophy (DMD) is a lethal genetic disorder affecting children caused by a mutation in a gene known as dystrophin, with an average life expectancy of only 25 years. DMD is characterized by progressive muscle degradation that slowly spreads throughout the body. By the age of 12, most patients are no longer able to walk, and by early adulthood, most patients experience heart and lung issues. While no cure for DMD currently exists, a growing class of DNA-like molecules known as morpholinos have shown promise in treating DMD by 'skipping over' the mutated region of gene transcripts, helping to improve patient's quality of life and increase their lifespan. Current morpholinos on the market suffer from limited scope and can only treat 8-13% of DMD patients. In this proposal, we aim to address this limitation by testing a combination of morpholinos known as a 'cocktail' designed to skip multiple sections of the gene at once, which will increase the number of patients who are able to use this treatment. Specifically, we aim to skip exons 45-55, a range that can treat approximately 50% of DMD. The cocktail treatment will be tested in a mouse model harbouring the human DMD gene, and efficacy will be determined by evaluating mouse behaviour, cardiac phenotype, and gene expression analysis. Testing in mice will lay the foundation for future clinical trials. Overall, this research will support a shift towards improved quality of life for DMD patients by aiding in the development of better treatment that is applicable to more patients.