Národní centrum lékařské genomiky (NCLG)
- Project Identification
- LM2015091
- Project Period
- 1/2016 - 12/2019
- Investor / Pogramme / Project type
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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
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Charles University
- Responsible person doc. Ing. Stanislav Kmoch, CSc.
University Hospital Pilsen
University Hospital Prague - Motol
University Hospital Brno-Bohunice
General Teaching Hospital Praha
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. Its existence and support must be therefore one of national priorities. 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, e.g. Next-gen Sequencing Technologies and Applications organized in 2013 in Brno.
Publications
Total number of publications: 51
2020
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Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing
VETERINARY AND COMPARATIVE ONCOLOGY, year: 2020, volume: 18, edition: 4, DOI
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Spatial structure of permafrost and active layer from the James Ross Island, Antarctica: Geological and Microbiological Insights
Year: 2020, type: Conference abstract
2019
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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI
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Activation of innate immunity by mitochondrial dsRNA in mouse cells lacking p53 protein
RNA, year: 2019, volume: 25, edition: 6, DOI
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Analysis of gene expression in CD26+ CML leukemic stem cell population.
Year: 2019, type: Conference abstract
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ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients
LEUKEMIA & LYMPHOMA, year: 2019, volume: 60, edition: 6, DOI
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CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase
Leukemia, year: 2019, volume: 33, edition: 2, DOI
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Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome
CLINICAL EPIGENETICS, year: 2019, volume: 11, edition: 1, DOI
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Detection and functional analysis of TP53 mutations in CLL
Methods in Molecular Biology - Chronic Lymphocytic Leukemia: Methods and Protocols, year: 2019, number of pages: 20 s.
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Drug Penetration Analysis in 3D Cell Cultures Using Fiducial-Based Semiautomatic Coregistration of MALDI MSI and Immunofluorescence Images
Analytical Chemistry, year: 2019, volume: 91, edition: 21, DOI