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Mass spectrometry
Newborn screening
Inborn errors of metabolism
Lipidology & cardiovascular disease
Lysosomal storage disorders
Summary
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.
Mass spectrometry
Newborn screening
Inborn errors of metabolism
Lipidology & cardiovascular disease
Lysosomal storage disorders
Summary
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.
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Clinical biochemistry (2022): 81-86
Joshua A. Dubland,Sima Allahverdian,Ying Wang, Collin S. Pryma, Carleena Ortega, Kamel Boukais,Katrina Besler,Michael A. Seidman,Teddy Chan,Gordon A. Francis
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