Dr. Sinclair’s research interests focus on the laboratory diagnosis and pathophysiology of inborn errors of metabolism. This work is primarily translational in nature, using mass spectrometry approaches to apply basic research findings to the diagnosis, screening, and monitoring of patients with metabolic disorders. This work has included proteomic studies of murine models of lysosomal storage disorders for biomarker discovery and validation, along with population genetics studies of fatty acid oxidation variants and their potential clinical impact. Finally, the expansion of Newborn Metabolic screening in BC has provided a number of opportunities for the development of improved disease biomarkers and mass spectrometry-based diagnostic testing for rare diseases in BC.