Name: Národní centrum lékařské genomiky
Institution: Univerzita Karlova
Coordinator: prof. Ing. Stanislav Kmoch, CSc.; skmoch@lf1.cuni.cz
Website
Medical genomics is a dynamically evolving scientific discipline that gathers and uses the genomic information of patients, their genetic relatives and even the entire population to identify the genetic, genomic and molecular bases of human health and disease. NCMG creates a large research infrastructure that allows for the rapid implementation of novel genomic technologies and enables their rational utilization in the characterization of genetic underpinnings of human health and disease in the Czech Republic. As in other countries, the Czech Republic has a unique population with genetic variants that may be specific to this population. Understanding genetic variation in the Czech Republic and how it compares to other populations will be an important step in understanding how genetics affects the health of individuals in the Czech Republic. NCMG currently possesses state-of-the-art instrumentation and provides expertise that is needed for genomic sequencing, transcriptome analysis, epigenetic analysis, cytogenomics, quantitative PCR analysis and high throughput genotyping. NCMG has sufficient computational and data storage capacities and provides basic bioinformatic and statistical support to a number of projects targeting various rare diseases, cancers and complex phenotypes. NCMG was conceived as a distributed multi-centered, nation-wide large research infrastructure of top genomic laboratories operating in leading national institutions of medical education and biomedical research.
Localization, and, at the same time, dissimilar specializations of individual laboratories guarantee the territorial and occupational development and application of genomics in the Czech Republic in accordance with worldwide trends. Within this setting, NCMG laboratories will develop its technological and methodological background in a coordinated and complementary manner, maintain and provide state-of-the-art
analytical expertise to investigators having access to well-defined cohorts of patients, control individuals and various clinical materials. Together with continued technological advances in instrumentation, data analysis and data storage, NCMG will build a reference database of genetic variations in the Czech population that will be based on exome – and later – whole genome sequencing data. The host institutions of NCMG are members of European Research Infrastructures such as BBMRI-ERIC (Biobanking and Biomolecular Resources Research Infrastructure), EATRIS ERIC (European Advanced Translational Research Infrastructure), ECRIN-ERIC (European Clinical Research Infrastructure Network), ELIXIR (European Life-Science Infrastructure for Biological Information) and EU-OPENSCREEN ERIC (European Infrastructure of Open Screening Platforms for Chemical Biology), of which the Czech Republic is a Member State.
