Project information
National Center for Medical Genomics
(NCLG)
- Project Identification
- LM2018132
- Project Period
- 1/2020 - 12/2022
- Investor / Pogramme / Project type
-
Ministry of Education, Youth and Sports of the CR
- Large Infrastructures for Research, Development and Innovation
- MU Faculty or unit
- Central European Institute of Technology
- Cooperating Organization
-
Charles University
- Responsible person prof. Ing. Stanislav Kmoch, CSc.
National Centre of Medical Genomics (NCMG) is the only research infrastructure in the Roadmap for Large Research, Development and Innovation Infrastructures of the Czech Republic focused on medical genomics. Local (national) genomic infrastructure is the only way how we can unite genomic experts, clinicians, scientist, patients and industry to study, identify and understand causes of individual and population specific diseases. Interdisciplinary collaboration will increase competitiveness of Czech biomedical science and our recent results clearly document, that this approach leads to significant discoveries (e.g. identification of causal genes and elucidation of molecular basis of > 20 human genetic diseases, leukemia, aspergillosis, inherited neurodegenerative and neuromuscular diseases, skin diseases and metabolics diseases), may attract foreign investigators to use the expertize and may have economic impact (new diagnostic products introduced on the market thanks to collaboration of MU and company Generi BioTech). Infrastructure is also important for education and training of new generation of scientists, computing specialists, bioinformaticians, statisticians, instrument operators, clinical genomicists and clinicians. All participating groups are involved in pregraduate and postgraduate education as well as in organization of specialised training programs and courses and organisation of workshops and symposia.
Sustainable Development Goals
Masaryk University is committed to the UN Sustainable Development Goals, which aim to improve the conditions and quality of life on our planet by 2030.
Publications
Total number of publications: 75
2023
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Orální bakteriom u pacientů s dlaždicobuněčným karcinomem dle stavu jejich dentice: pilotní studie
Year: 2023, type: Conference abstract
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Small RNA Sequencing Identifies a Six-MicroRNA Signature Enabling Classification of Brain Metastases According to their Origin
CANCER GENOMICS & PROTEOMICS, year: 2023, volume: 20, edition: 1, DOI
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Targeted treatment of severe vascular malformations harboring PIK3CA and TEK mutations with alpelisib is highly effective with limited toxicity
Scientific reports, year: 2023, volume: 13, edition: 1, DOI
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Telomerase RNA in Hymenoptera (Insecta) switched to plant/ciliate-like biogenesis
Nucleic acids research, year: 2023, volume: 51, edition: 1, DOI
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The effect of intrapartum antibiotics prophylaxis on neonatal gut and oral bacteriome
Year: 2023, type: Conference abstract
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The effect of intrapartum antibiotics prophylaxis on oral bacteriome in neonates in the first week of theri life - i pilot study
Year: 2023, type: Conference abstract
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The SAGA histone acetyltransferase module targets SMC5/6 to specific genes
EPIGENETICS & CHROMATIN, year: 2023, volume: 16, edition: 1, DOI
2022
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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
International Journal of Molecular Sciences, year: 2022, volume: 23, edition: 2, DOI
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Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?
Biomedical Papers, year: 2022, volume: 166, edition: 2, DOI
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CF Day Meeting
Year: 2022, type: Popularization text