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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
Department of Pediatrics and Adolescent Medicine
