Specialization
Clinical Biochemist IEM
Focus of research
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.