Projects per year
Personal profile
Research interests
My research focusses on the metabolism of complex lipids and their role in genetic disease, acquired disorders and aging. Lipid metabolism is a relatively uncharted territory but the etiology of many diseases, both mono- and polygenic, is increasingly associated with (disturbances of) complex lipid metabolism. Highlights of my research efforts include the discovery of new inborn errors of (lipid) metabolism (NTCP, PCYT2 deficiency) and the development of a newborn screening test for cerebrotendinous xanthomatosis (CTX), a disorder of bile acid synthesis, which hopefully will allow the introduction of this disorder in the Dutch neonatal screening program.
My group’s focus is broadening as we also are involved in trying to understand the metabolic perturbations of communal and acquired disorders such as heart disease and diabetes as part of large consortia including CVON (Energise!). More recently, we have also started collaborations investigating the lipidome of infectious diseases as meningitis and COVID-19. To study complex lipid metabolism it is required to be able to comprehensively analyze lipids in various biological matrices. For this reason, over the last 20 years my group has developed and used state-of-the-art technological metabolomics/lipidomics platforms. With the aid of research technology grants we have acquired 2 new innovative mass spectrometers which we have used to develop leading lipidomics and metabolomics platforms that are increasingly applied in search of disease biomarkers and functional characterization of model systems. An important aspect that we are pioneering together with bioinformaticians in our group is the development of suitable data processing and representation software for this type of complex data. Combining these aspects with an in depth knowledge of metabolism allows the characterization of metabolism and detailed analysis of its perturbation by disease, also beyond genetic disorders.
specialisation
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):
Collaborations and top research areas from the last five years
Projects
- 1 Active
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Wanders R.J.A.: Focus of research
van de Beek, M., Chatzispyrou, I., Daniels, E., van Engen, C., Falkenberg, K., Gao, A., Held, N., Herzog, K., Khan, R., Schackmann, M., Liu, J., Wanders, R., Ferdinandusse, S., Kulik, W., van Roermund, C., Vaz, F., Houtkooper, R., te Brinke, H., Denis, S. & IJlst, L.
1/01/2007 → …
Project: Research
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A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Sun, M., Kaminsky, C. K., Deppe, P., Ilse, M-B., Vaz, F. M., Plecko, B., Lübke, T. & Randolph, L. M., 1 May 2024, In: Genes and Diseases. 11, 3, 101025.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Cardiac lipidomic profiles in mice undergo changes from fetus to adult
Chen, Z., Pan, Z., Huang, C., Zhu, X., Li, N., Huynh, H., Xu, J., Huang, L., Vaz, F. M., Liu, J., Han, Z. & Ouyang, K., 15 Mar 2024, In: Life sciences. 341, 122484.Research output: Contribution to journal › Article › Academic › peer-review
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Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233))
Hollander, B. D., Rothuizen-Lindenschot, M., Geertjens, L., Vaz, F. M., Brands, M. M., Le, H. L., van Eeghen, A. M., van de Ven, P. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H. & van Karnebeek, C. D., Apr 2024, In: Contemporary Clinical Trials Communications. 38, 101264.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
Diacylglycerols and Lysophosphatidic Acid, Enriched on Lipoprotein(a), Contribute to Monocyte Inflammation
Dzobo, K. E., Cupido, A. J., Mol, B. M., Stiekema, L. C. A., Versloot, M., Winkelmeijer, M., Peter, J., Pennekamp, A-M., Havik, S. R., Vaz, F. M., van Weeghel, M., Prange, K. H. M., Levels, J. H. M., de Winther, M. P. J., Tsimikas, S., Groen, A. K., Stroes, E. S. G., de Kleijn, D. P. V. & Kroon, J., 1 Mar 2024, In: Arteriosclerosis, Thrombosis, and Vascular Biology. 44, 3, p. 720-740 21 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
Vaz, F. M., Staps, P., van Klinken, J. B., van Lenthe, H., Vervaart, M., Wanders, R. J. A., Pras-Raves, M. L., van Weeghel, M., Salomons, G. S., Ferdinandusse, S., Wevers, R. A. & Willemsen, M. A. A. P., 1 Mar 2024, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1869, 2, p. 159447 159447.Research output: Contribution to journal › Article › Academic › peer-review
Open Access