Research activities

Institute of Inherited Metabolic Disorders is interested mainly in studying pathogenetic mechanisms of selected inborn errors of metabolism and several more general topics of interest (e.g. biological properties of nanomaterials, chromosome X inactivation etc.).

Research laboratories routinely use common biochemical methods, molecular genetic techniques including mRNA expression studies and linkage analysis, employs expression and characterization of mutant proteins in heterologous systems, and uses morphological studies including immunohistochemistry and confocal microscopy. Research is carried out by approximately 60 employees including PhD students, expertise varies from molecular genetics over cell biology to clinical medicine and epidemiology.

Main research groups

  • Genomics and Bioinformatics Laboratory
    • Research Group of Purine Metabolism Disorders
    • Research Group of Histopathology of Inborn Errors of Metabolism and Rare Diseases
  • Laboratory of the Biology and Pathology of the Eye
  • Laboratory of biochemistry and cell biology of inherited errors of metabolism
    • Research Group of Lysosomal Storage Disorders
    • Research Group of Cell Interaction with Nanomaterials
  • Laboratory of Biochemical Genetics
    • Research Group of Sulfur amino acid metabolism
    • Research Group of Uric Acid metabolism


lysosomal storage disease, neuronal ceroid lipofuscinosis, Niemann Pick disease, Fabry disease, prosaposin deficiency, mucopolysaccharidosis IIIC, uromodulin, familial juvenile hyperuricemic nephropathy, TMEM 76, 70, DNA chips, linkage analysis, gene identification, X-chromosome inactivation, C.elegans, nanomaterials, homocysteine, cystathionine beta-synthase deficiency, methionine synthase reductase deficiency