Joshua Dubland

PhD, MSc

Investigator, BC Children's Hospital
Scientist, Newborn Screening and Biochemical Genetics Laboratories, BC Children's Hospital

Advances in mass spectrometry are the primary driving force behind the increasing number of inborn-errors of metabolism screened population-wide. The Newborn Screening laboratory at BC Children’s Hospital utilizes mass spectrometry for screening 45,000 newborns annually for a panel of 24 treatable disorders. Initial screening involves the analysis of dried blood spot cards by flow injection mass spectrometry. For a subset of conditions, abnormal screens are followed up with a second tier analysis using liquid chromatographic separations followed by mass spectrometry to increase analytical specificity and confirmation of diagnosis. My current research focuses on the development of novel mass spectrometry based assays for clinical diagnosis of inborn errors of metabolism.

Additional research interests include applications of mass spectrometry and other next generation analytical technologies for biomarker and drug target discovery. Investigation of inherited lipid metabolism disorders, lysosomal storage disorders, and environmental stress factors associated with lifetime cardiovascular disease risk are of particular interest.