Our group is studying the lysosomal storage disorder cystinosis (MIM #219800), with the goal of unraveling its pathogenesis, finding novel biomarkers, neonatal screening and developing curative therapies. We work in close collaboration with the Cystinosis Patient Group Netherlands and Belgium, as well as with Cystinosis Network Europe. We have established patient-derived and isogenic cell models of cystinosis in both 2D and 3D cultures (including organoids and tubuloids), and we are also utilizing a zebrafish model of cystinosis for compound screening.
Amsterdam UMC (AUMC) is an active member of the Dutch Pediatric Nephrology Consortium Kidnie, which was recently awarded €10 million (March 2025) by the Postcode Lottery’s Dream Fund (Droomfonds) to develop gene therapy for cystinosis.
