Inherited metabolic disorders
Focus of research
My research focusses on inherited metabolic diseases in adults, with an emphasis on lysosomal storage disorders (LSDs) and fatty acid oxidation disorders (FAOD). LSD research is embedded in SPHINX, a collaboration of the departments of Radiology, Internal Medicine and Paediatrics and the Laboratory of Genetic and Metabolic Diseases of the AMC. Within the LDSs, my main focus is Fabry disease, I lead the following research projects, supervising 3 PhD students: 1. characterisation and consequences of the antibody response to enzyme replacement therapy (PhD student: Sanne van der Veen) 2. cognitive symptoms in Fabry disease and their relation to white matter abnormalities (PhD student: Simon Korver) 3. the natural history and consequences of cardiac pathology in Fabry disease (PhD student: Mohamed el Sayed). In addition I'm the local PI for international trials studying the safety and efficacy of a new form of enzyme replacement therapy. Recently, we launched an 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 my previous position at the Erasmus MC, I was the main supervisor of a PhD project on skeletal complications in two LSDs, the mucopolysaccharidosis and mucolipidosis (PhD student Esmee Oussoren).
In the field of fatty acid oxidation disorders, my research currently focusses on primary carnitine deficiency (collaboration with UMC Utrecht). PhD student Loek Crefcoeur performs studies on the natural history and the usefulness and feasibility of newborn screening for this disorder.
Other research activities are a an exploratory study into the role the microbiome in urea cycle disorders and a project on discovery of inborn errors of metabolism in patients with an unexplained disorders (Zoektocht Erfelijke Metabole Aandoeningen (ZOEMBA) study.
I'm secretary of the adult metabolic physicians working group of the Society for Study of Inborn Errors of Metabolism (SSIEM, www.ssiem.org/amp) and as such involved in organising sessions at the yearly SSIEM conference and setting up a new Adult Inborn Errors of Metabolism training course. I’m an active member of the Internisten voor Erfelijke Stofwisselingsziekten (INVEST) group and coordinated the construction of the INVEST website (www.investof.nl) containing information on care of adults with inherited metabolic disorders in the Netherlands and Belgium (Vlaanderen).