Some children are born unable to carry out a single chemical step that the rest of us never think about. It could be a vitamin that does not reach the part of the cell that needs it, or perhaps a waste product that builds up where it should be cleared. These biochemical changes can have profound consequences, including epilepsy, anemia, developmental disability, and progressive neurological disease.

Our research focuses on rare disorders affecting vitamin and cofactor metabolism, mitochondrial function, cellular transport, and lysosomal biology, including vitamin B6-dependent epilepsies, congenital sideroblastic anemia, riboflavin transporter deficiency, and mucopolysaccharidosis type I.

A defining strength of the laboratory is the integration of functional genomics and mass spectrometry. We use CRISPR-based genome engineering and genetic screens to identify disease mechanisms, and advanced metabolomics and proteomics to determine how those genetic defects alter cellular metabolism. Together, these approaches allow us to connect genes, pathways, and metabolites.

Using patient-derived samples, stem cell models, and animal models, we investigate disease biology across multiple systems and scales. Our goal is to uncover fundamental principles of human metabolism and identify new opportunities for therapeutic intervention.

Based at the CHEO Research Institute and the University of Ottawa, we work closely with clinicians, patient families, and collaborators across Canada and internationally.