Národní centrum lékařské genomiky (NCLG)
- Kód projektu
- LM2015091
- Období řešení
- 1/2016 - 12/2019
- Investor / Programový rámec / typ projektu
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Ministerstvo školství, mládeže a tělovýchovy ČR
- Velké infrastruktury pro výzkum, vývoj a inovace
- Fakulta / Pracoviště MU
- Středoevropský technologický institut
- Spolupracující organizace
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Univerzita Karlova v Praze
- Odpovědná osoba doc. Ing. Stanislav Kmoch, CSc.
Fakultní nemocnice Plzeň
Fakultní nemocnice v Motole
Fakultní nemocnice Brno
Všeobecná fakultní nemocnice v Praze - Praha 2
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.
Publikace
Počet publikací: 54
2020
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MiR-215-5p Reduces Liver Metastasis in an Experimental Model of Colorectal Cancer through Regulation of ECM-Receptor Interactions and Focal Adhesion
Cancers, rok: 2020, ročník: 12, vydání: 12, DOI
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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
Frontiers in Genetics, rok: 2020, ročník: 11, vydání: October 2020, DOI
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Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing
VETERINARY AND COMPARATIVE ONCOLOGY, rok: 2020, ročník: 18, vydání: 4, DOI
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Spatial structure of permafrost and active layer from the James Ross Island, Antarctica: Geological and Microbiological Insights
Rok: 2020, druh: Konferenční abstrakty
2019
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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
HUMAN GENOME VARIATION, rok: 2019, ročník: 6, vydání: MAR, DOI
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Activation of innate immunity by mitochondrial dsRNA in mouse cells lacking p53 protein
RNA, rok: 2019, ročník: 25, vydání: 6, DOI
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Analysis of gene expression in CD26+ CML leukemic stem cell population.
Rok: 2019, druh: Konferenční abstrakty
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ATM and TP53 mutations show mutual exclusivity but distinct clinical impact in mantle cell lymphoma patients
LEUKEMIA & LYMPHOMA, rok: 2019, ročník: 60, vydání: 6, DOI
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CLL cells cumulate genetic aberrations prior to the first therapy even in outwardly inactive disease phase
Leukemia, rok: 2019, ročník: 33, vydání: 2, DOI
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Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome
CLINICAL EPIGENETICS, rok: 2019, ročník: 11, vydání: 1, DOI