Research description

I am interested in understanding how genomic changes found in patients result in disease, aiming to identify the affected cellular pathways and, whenever possible, potential targets for therapy. In many cases the disease-causing genomic changes have already been described, however a significant percentage of patients are still undiagnosed. I focus on assessing the relevance of mutations in candidate genes found by whole exome or genome sequencing in disease using mainly the zebrafish model. The disorders I am studying include congenital myopathies, malformations and dysplasias, and ciliopathies.