Institute of Inherited Metabolic Disorders

  • More than 100 staff members conducting research, laboratory diagnostics and patients‘ care.
  • Main research focus is on studying pathogenetic mechanisms of selected inborn errors of metabolism (e.g. lysosomal storage disorders, disorders of purine and homocysteine/B vitamins metabolism) and identification and characterization of genetic and molecular basis of rare genetic diseases.
  • Covering a wide range of approaches from biochemical, enzymological and morphological as well as using up-to-date genetic / genomic analysis while also focusing on ethical aspects of biomedical research and diagnostics.
  • Top-notch facilities include next-generation sequencing, tandem-mass spectrometry and state-of-the-art confocal microscopy.
  • Research teams of the Institute are engaged in many long-term collaborations on both national and international level, which result in numerous projects and publications in prestigious academic journals.
  • Up to 5 new grant projects are launched annually and results of our research are published in more than 30 publications in peer-reviewed journals every year.
  • Senior researchers are actively participating in peer review system and are members or boards of various international societies, grant agencies and editorial boards of international scientific journals.
  • Leading institution in Czech Republic in diagnostic services and clinical care for a large number of known inborn errors of metabolism (IEMs) in close cooperation with Department of Pediatrics and Adolescent Medicine
  • One of the providers of laboratory newborn screening covering about 70% of births (approx. 80 000 newborns per year) in the Czech Republic including clinical follow-up for most patients identified by newborn screening for IEMs.
  • Official regulating body for the nationwide newborn screening program was established at the Institute by the Ministry of Health of the Czech Republic
  • Important „nursery“ of young scientists offering opportunities for pregraduate and postgraduate education with 40 finished PhD projects and 15 current PhD students.
  • Active participation in teaching especially in the field of Pathobiochemistry.