Projects per year
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
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Collaborations and top research areas from the last five years
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Gyrate Atrophy: Gyrate Atrophy: resolution of the mechanism(s) behind the ornithine-induced toxicity of ornithine in patients’ derived iPSCs is proline a treatment option?
Vaz, F. (Principal investigator) & van Harskamp, D. (Project Member)
01/04/2025 → 01/04/2026
Project: Research
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VNA-318-01 Metabolomics: VNA-318 Metabolomics in PBMCs derived from human blood samples of Vandria’s clinical trial VNA-318-01
Vaz, F. (Principal investigator)
20/03/2025 → 20/03/2027
Project: Research
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Propel: PROPEL study - VLCFA and LPC(26:0) measurements
Vaz, F. (Principal investigator)
18/04/2024 → 17/04/2029
Project: Research
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ON TIME: ONderzoek TIjdige diagnose MEtabole ziekten
Vaz, F. (Principal investigator)
01/04/2024 → 01/04/2027
Project: Research
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SPIBA400: Stealth’s SPIBA-400 clinical study
Vaz, F. (Principal investigator)
26/05/2023 → 25/05/2028
Project: Research
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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 Access -
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria
Eskes, E. C. B., van Dussen, L., Brands, M. M. M. G., Vaz, F. M., Aerts, J. M. F. G., van Kuilenburg, A. B. P., Sjouke, B. & Hollak, C. E. M., Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12789.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus) -
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus) -
The composition of commercially available human embryo culture media
Zagers, M. S., Laverde, M., Goddijn, M., de Groot, J. J., Schrauwen, F. A. P., Vaz, F. M. & Mastenbroek, S., 1 Jan 2025, In: Human reproduction (Oxford, England). 40, 1, p. 30-40 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus) -
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders
Ferrero, E., Vaz, F. M., Cheillan, D., Brusco, A. & Marelli, C., 1 Mar 2025, In: Molecular genetics and metabolism. 144, 3, 109050.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access1 Citation (Scopus)
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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