Personal profile
Research interests
The focus of my group’s work is on the metabolism of complex lipids and their role in genetic disease, acquired disorders and ageing. We combine detailed knowledge of human metabolism from a clinical/translational perspective with the world-renowned technical know-how of metabolomics to perform research on metabolism. By characterizing metabolism using state-of-the-art analytical techniques in combination with, in house, tailor-made bioinformatics we have created a set of metabolomics platforms including targeted assays, small molecule metabolomics, fluxomics and lipidomics which we successfully apply to characterize the metabolome in different (disease) model systems ranging from bacteria to human tissues. Our ultimate goal is to use these technologies to unravel pathologic mechanism of disease and promote the development of new therapeutic strategies for both inherited and acquired disorders.
Specialisation
Clinical Biochemist inborn errors of metabolism
BKO certified instructor
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Collaborations and top research areas from the last five years
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HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts
Corazolla, E. M., Schomakers, B., Tretowicz, M. M., Hermans, J., van Weeghel, M., Vaz, F. M., Pras-Raves, M. L., der Vlugt, K. M. M.G.-V., Stet, F. S. B., Goorden, S. M. I., Jansen - Meijer, J., Janssens, G., Hollak, C., Houtkooper, R. & van Kuilenburg, A. B. P., 16 Jan 2026, In: Journal of Cellular Biochemistry. 127, 1Research output: Contribution to journal › Article › Academic › peer-review
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Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
Li, X., Yeganeh, M., Sinclair, G., Mwenifumbo, J., Jacob, K. J., Arbour, L., Lehman, A., Rakic, B., Vaz, F. M., Horvath, G., Tarailo-Graovac, M. & Stockler-Ipsiroglu, S., 1 Dec 2025, In: npj Genomic Medicine. 10, 1, 64.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile26 Downloads (Pure) -
Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy
Staal, S. L., Olie, S. E., van Weeghel, M., Schomakers, B. V. & I-PACE Study Group, Oct 2025, In: Annals of neurology. 98, 4, p. 851-863 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile28 Downloads (Pure) -
Challenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance
Bouwhuis, N., Polak, Y., Schimmel, A. M., Bijleveld, Y. A., Giera, M. A., Heijink, M., Vaz, F. M., Bootsma, A. H., Berg-Lammers, L. A. T., Swart, N. E. L., Hollak, C. E. M., Jacobs, B. A. W. & Kemper, E. M., 1 Feb 2025, In: European journal of pharmaceutical sciences. 205, p. 106979 106979.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile27 Downloads (Pure) -
Disorders of fatty acid homeostasis
Vaz, F. M., Ferdinandusse, S., Salomons, G. S. & Wanders, R. J. A., Jan 2025, In: Journal of inherited metabolic disease.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile40 Downloads (Pure)
Prizes
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Best publication and presentation: SSIEM conference breaking news session
Vaz, F. (Recipient), 1 Sept 2020
Prize › Professional
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