HOME

Research activities

Institute of Inherited Metabolic Disorders is interested mainly in studying pathogenetic mechanisms of selected inborn errors of metabolism (e.g. lysosomal storage disorders, disorders of purine and homocysteine/B vitamins metabolism), more general topics of interest include biological properties of nanomaterials, chromosome X inactivation and the use of C.elegans as a model in biomedicine.

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.

Keywords/topics:

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

Institute of Inherited Metabolic Disorders

Welcome on the website of the Institute of Inherited Metabolic Disorders of the First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague.

This website is currently under reconstruction, you can find the previous version of our presentation here.