Specialization
Inherited metabolic disorders
Focus of research
As head of the adult metabolic unit at the Amsterdam UMC, my research focusses on inherited metabolic disorders (IMDs) in adults, with an emphasis on lysosomal storage disorders (LSDs), fatty acid oxidation disorders (FAOD) and advanced diagnostics. Within the LDSs, my main focus is Fabry disease, performing studies on the natural history and consequences of cardiac pathology in Fabry disease, the effect of different treatments and genotype phenotype associations. Our centre hosts the open access Fabry genotype phenotype website: www.fabrygenphen.com, providing open access to a large international database, simplifying interpretation of detected GLA gene variants.
In the field of fatty acid oxidation disorders, my research focusses on primary carnitine deficiency and CPTII deficiency (collaboration with UMC Utrecht), specifically the feasibility of newborn screening for these conditions. In a addition we have set up a study in adults with long chain fatty acid oxidation disorders (VLCADD/CPTIID/LCHADD/MTPD) aimed at identifying suitable outcome measures for future intervention studies.
Our research on advanced diagnostics concentrates of finding the most efficient approach for diagnosing inborn errors of metabolism in adults, looking at the application of different diagnostic techniques such as genomics, metabolomics and deep phenotyping. We have recently started a multidisciplinary clinic for patients with complex unresolved disorders, trying to identify the underlying genetic cause.
I'm secretary of the adult metabolic physicians working group of the Society for Study of Inborn Errors of Metabolism and as such involved in organising sessions at the yearly SSIEM conference and setting up the Adult Inborn Errors of Metabolism training course. I’m head of the Dutch Society for Adult Metabolic Specialists and a member of the Program Committee for Newborn Screening.