Laboratory, Pharmacy and Biomedical Genetics Division, Metabolic Diagnostics, University Medical Center, UMC Utrecht
Q: What is the focus of your lab’s research?
A: Our lab specializes in diagnostics and pathophysiology of rare genetic (metabolic) disease. Specifically, our work focuses on the development and introduction of untargeted metabolomics in diagnostics and on integrating genomics and metabolomics data to improve patient care. Together with our (inter)national collaborators we helped discover multiple novel genetic diseases in the past few years. The TriVersa NanoMate® is used to infuse metabolite extracts of patient or research samples onto a high resolution mass spectrometer.
Q: Why did you incorporate the TriVersa NanoMate® into your
laboratory?
A: The TriVersa NanoMate® provides an easy to use and efficient method for sample infusion. Furthermore, and essential for our diagnostic practice, it virtually eliminates the chances of carryover.
Q: Who would you recommend to purchase the TriVersa NanoMate®?
A: I recommend the TriVersa NanoMate® to laboratories applying direct-infusion mass spectrometry for metabolomics (targeted and untargeted) analysis.
Q: Do you have any publications or presentations using the TriVersa NanoMate®?
A: We performed untargeted metabolomics on dried blood spots of patients with 46 different genetic metabolic defects, and we simulated their whole-exome sequencing results in silico. We showed that for accurate prioritization of disease causing genes, it is essential to take into account not only the primary reaction of the affected protein but a larger network of potentially affected metabolites, multiple steps away from the primary reaction.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Kerkhofs MHPM, Haijes HA, Willemsen AM, van Gassen KLI, van der Ham M,
Gerrits J, de Sain-van der Velden MGM, Prinsen HCMT, van Deutekom HWM, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Metabolites. 2020 May 18;10(5):206.doi: 10.3390/metabo10050206.
