Overview

Mass spectrometry is a powerful analytical technique with widespread applications, including the clinical laboratory. In the Newborn Screening (NBS) and Biochemical Genetics Laboratories (BGL) at BC Children’s Hospital, we utilize tandem mass spectrometry (MS/MS) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) to identify and quantify analytes of interest in biological matrices (e.g., blood, plasma, serum, cerebrospinal fluid, urine), which aids in the diagnoses of disorders. My research interests focus on the application of tandem mass spectrometry in clinical diagnoses of inborn errors of metabolism.

Publications

Large-scale proteome profile of the zebrafish (Danio rerio) gill for physiological and biomarker discovery studies.
De Souza AG and MacCormack TJ and Wang N and Li L and Goss GG
DOI: 10.1089/zeb.2009.0591
PubMed: 19715488
09/2009

HMDB: a knowledgebase for the human metabolome.
Wishart DS and Knox C and Guo AC and Eisner R and Young N and Gautam B and Hau DD and Psychogios N and Dong E and Bouatra S and Mandal R and Sinelnikov I and Xia J and Jia L and Cruz JA and Lim E and Sobsey CA and Shrivastava S and Huang P and Liu P
DOI: 10.1093/nar/gkn810
PubMed: 18953024
01/2009

Proteome profile of cytosolic component of zebrafish liver generated by LC-ESI MS/MS combined with trypsin digestion and microwave-assisted acid hydrolysis.
Wang N and Mackenzie L and De Souza AG and Zhong H and Goss G and Li L
DOI: 10.1021/pr060367o
PubMed: 17203970
01/2007

Research

Current Projects
Amino acid disorders are a class of inherited metabolic disorders which can be attributed to an enzyme deficiency in metabolic pathways, resulting in the toxic accumulation of some substances and the deficiency of others. The measurement of amino acids in plasma is essential in the diagnosis of inborn errors of metabolism (IEM) and the monitoring of affected patients. We developed and validated an LC-MS/MS method to measure amino acids in plasma. Compared to the previous method used in BGL, our new method allows for a higher volume of samples to be analyzed in a day, and has reduced turn-around-times. The next phase of this project is to validate and implement an LC-MS/MS method for urine and cerebrospinal fluid amino acid analyses.

Niemann-Pick Disease Type C (NPC1) is a rare autosomal recessive lysosomal storage disorder, which leads to progressive neurological dysfunction. There is currently limited non-invasive diagnostic testing for NPC1. Therefore, it often goes undiagnosed until advanced symptoms are present. This is particularly true for pediatric cohorts. A novel treatment has recently become available for NPC1, making the need for a non-invasive test even more important. Our laboratory aims to implement a screening assay using LC-MS/MS to test for NPC1 in plasma. This will alleviate the diagnostic delay and enable timely treatment.

Honours & Awards

Graduate Student Scholarship, Government of Alberta, 2006

Profiling Alberta’s Graduate Student Award, University of Alberta, 2009