Select Scientific Publications
Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism
Lisa Ford, Adam D Kennedy, Kelli D Goodman, Kirk L Pappan, Anne M Evans, Luke A D Miller, Jacob E Wulff, Bobby R Wiggs, III, John J Lennon, Sarah Elsea, Douglas R Toal
The Journal of Applied Laboratory Medicine, Volume 5, Issue 2, March 2020, Pages 342–356
The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory. Here, we describe a clinical metabolomics method for the screening of metabolic diseases through the analysis of a multi-pronged mass spectrometry platform. By simultaneously measuring hundreds of metabolites in a single sample, clinical metabolomics offers a comprehensive approach to identify metabolic perturbations across multiple biochemical pathways.
Validation of a Metabolite Panel for a More Accurate Estimation of Glomerular Filtration Rate Using Quantitative LC-MS/MS
Tiffany A Freed, Josef Coresh, Lesley A Inker, Douglas R Toal, Regis Perichon, Jingsha Chen, Kelli D Goodman, Qibo Zhang, Jessie K Conner, Deirdre M Hauser, Kate E T Vroom, Maria L Oyaski, Jacob E Wulff, Gudný Eiríksdóttir, Vilmundur Gudnason, Vicente E Torres, Lisa A Ford, Andrew S Levey
Clinical Chemistry, 2019 Mar;65(3):406-418
Clinical practice guidelines recommend estimation of glomerular filtration rate (eGFR) using validated equations based on serum creatinine (eGFRcr), cystatin C (eGFRcys), or both (eGFRcr-cys). However, when compared with the measured GFR (mGFR), only eGFRcr-cys meets recommended performance standards. Our goal was to develop a more accurate eGFR method using a panel of metabolites without creatinine, cystatin C, or demographic variables.
Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing
Journal of Mass Spectrometry, 2018; 53:1143–1154
Metabolomics is the untargeted measurement of the metabolome, which is composed of the complement of small molecules detected in a biological sample. As such, metabolomic analysis produces a global biochemical phenotype. It is a technology that has been utilized in the research setting for over a decade. The metabolome is directly linked to and is influenced by genetics, epigenetics, environmental factors, and the microbiome—all of which affect health...
Mtabolomics, June 2017;
A major bottleneck in metabolomic studies is metabolite identification from accurate mass spectrometric data. Metabolite x17299 was identified in plasma as an unknown in a metabolomic study using a compound-centric approach where the associated ion features of the compound were used to determine the true molecular mass.
LC-MS/MS method for quantitation of seven biomarkers in human plasma for the assessment of insulin resistance and impaired glucose tolerance
Journal of Chromatography B, 2016; 1038:101-108
Early detection of insulin resistance (IR) and/or impaired glucose tolerance (IGT) is crucial for delaying and preventing the progression toward type 2 diabetes. We recently developed and validated a straightforward metabolite-based test for the assessment of IR and IGT in a single LC–MS/MS method.
Analytical Performance of Multiplexed Screening Test for 10 Antibiotic Resistance Genes from Perianal Swab Samples
Clinical Chemistry, 2016; 62(2):353-359
Multiantibiotic-resistant bacteria pose a threat to patients and place an economic burden on health care systems. Carbapenem-resistant bacilli and extended-spectrum β-lactamase (ESBL) producers drive the need to screen infected and colonized patients for patient management and infection control.