New strategy for the diagnosis of patients with Pompe disease using new generation sequencing (Genzyme corp). The Peroxisome Biogenesis Disorders: From Bench to Bedside (CIHR). Clinical application of exome sequencing for the molecular diagnosis of polymalformative syndromes (Star Foundation). Development of a molecular diagnostic platform for Zellweger syndrome in Quebec (Fondation Go, The Grand Défi Pierre Lavoie).

Clinical genomics is currently in full swing with the development of new sequencing technologies, which are particularly powerful for the analysis of rare diseases caused by multiple genes. However, the clinical application of these large-scale technologies is confronted with various issues such as consent, accidental findings and the prediction of causal mutations among a massive amount of variation. Levesque's laboratory is interested in these sequencing technologies that revolutionize the practice of medical genetics and their clinical applications in the context of the following groups of genetic disorders: polymorformative syndromes in the fetus and the child, peroxisomal and Lysosomal diseases.