National Center for Medical Genomic

NCMG – website

Hosting institution: Charles University

Partner institutions:

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 basis of human health and disease. NCMG creates a research infrastructure that allows 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. NCMG currently possesses the 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, cancer and complex phenotypes.

Future development

NCMG is conceived as a distributed multi-centered, nation-wide research infrastructure of top genomic laboratories operating at 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. In this setting, NCMG laboratories will develop its technological and methodological background in 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. 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. Together with continued technological advances in instrumentation, data analysis and data storage, NCMG will build up a reference database of genetic variation of the Czech population that will be based on exome – and later – whole genome sequencing data.

Socio-economic impact

Medical genomics provides new methodologies for biomedical research and alters how we think about the causes of disease. These findings will have an immediate impact on clinical practice. NCMG research infrastructure is therefore essential for education and training of a new generation of researchers, computer scientists, bioinformaticians, statisticians, instrument operators, clinical geneticists and clinicians. NCMG is also a unique platform for the preparation of expert recommendations and guidelines for various professional and governmental bodies in the Czech Republic. The expertise available within NCMG structure can be also used by commercial sector.