Research interests

  • My research focusses 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 highly informative metabolomics platforms including targeted assays, small molecule metabolomics and lipidomics, covering a large part of the metabolome. The collaboration with the bioinformatics group of Prof. Antoine van Kampen has been of crucial importance and has uncovered the absolute need for interdisciplinary collaboration between clinical biochemists, bioinformaticians and technicians to build high quality metabolomics platforms.
  • For my research I have focussed on fatty metabolites. This focus can be attributed to my role in metabolite diagnostics of inborn errors of metabolism and interest in bile acid synthesis and lipid metabolism in general. As a specialist on inborn errors of bile acid metabolism I discovered a new disorder of bile acid transport (NTCP deficiency) which originated from a strange biochemical pattern in a patient with hypercholenemia (elevated plasma bile acids).
  • The serendipitous diagnosis of a neonate with cerebrotendinous xanthomatosis (CTX), an inborn error of metabolism of bile acid synthesis, stimulated us to develop a new and fast bloodspot assay to diagnose this disorder. This method has been patented (just licensed by Perkin-Elmer) and this paves the way for introduction of CTX in the Dutch neonatal screening program. As a bile acid specialist I was closely involved with the biochemical analysis related to the aim of Dr. Marleen Kemper and Prof. Carla Hollak (Amsterdam UMC) to produce the bile acid chenodeoxycholic acid needed for treatment of CTX.
  • Another disorder, a metabolic cardiomyopathy called Barth syndrome -discovered in our laboratory- initiated the development of the lipidomics platform which now detects thousands of lipid species in different matrices. Disorders of complex lipids are a new area of lipid metabolism that is largely uncharted. During the years we have been involved in the functional confirmation and metabolic elucidation of disease mechanisms of a number of these diseases (SERAC1, CLPB deficiency) cumulating in the very recent Brain paper describing the discovery and mechanism of a new inborn error of phospholipid synthesis, PCYT2 deficiency.

specialisation

Clinical Biochemist IEM

Research output

  1. Skeletal muscle in healthy humans exhibits a day-night rhythm in lipid metabolism

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The effect of mirabegron on energy expenditure and brown adipose tissue in healthy lean South Asian and Europid men

    Research output: Contribution to journalArticleAcademicpeer-review

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