Congratulations! Matthew Benson for being awarded the Queen Elizabeth II Graduate Scholarship - Master's Level
Matthew's thesis involves investigating the functional effect of a mutation in PEX6, a peroxisomal gene, in a patient with a peroxisomal biogenesis disorder. This inherited disorder triggers a collection of disabilities including severe vision loss, sensorineural hearing loss, neurologic dysfunction, and vertebral anomalies. Matthew will be performing in vitro studies to understand the effect of PEX6 mutations on peroxisome number and function and he will be treating cells with an inhibitor of peroxisome degradation to determine if the aberrant phenotype can be rescued. This study aims to advance the understanding of the mechanism of disease in patients with peroxisomal biogenesis disorders and highlight a potential therapeutic intervention for these patients.