- Main research focus is on studying pathogenetic mechanisms of selected inborn errors of 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.
- 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
- Active participation in teaching especially in the field of Pathobiochemistry.
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Department of Pediatrics and Adolescent MedicineDiagnostic and Research Unit for Rare Diseases
1st Faculty of Medicine UK a VFN in Prague
