Informace o projektu
Národní centrum lékařské genomiky
(NCLG)
- Kód projektu
- LM2018132
- Období řešení
- 1/2020 - 12/2022
- 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
-
Univerzita Karlova
- Odpovědná osoba 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.
Cíle udržitelného rozvoje
Masarykova univerzita se hlásí k cílům udržitelného rozvoje OSN, jejichž záměrem je do roku 2030 zlepšit podmínky a kvalitu života na naší planetě.
Publikace
Počet publikací: 43
2024
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A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study
British journal of haematology, rok: 2024, DOI
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Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy
ESC Heart Failure, rok: 2024, DOI
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Impact of intrapartum antibiotic prophylaxis on the oral and fecal bacteriomes of children in the first week of life
Nature Scientific Reports, rok: 2024, ročník: 14, vydání: 1, DOI
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Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients
British journal of haematology, rok: 2024, ročník: 204, vydání: 1, DOI
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Investigation of long non-coding RNAs in extracellular vesicles from low-volume blood serum specimens of colorectal cancer patients
CLINICAL AND EXPERIMENTAL MEDICINE, rok: 2024, ročník: 24, vydání: 1, DOI
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Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis
Journal of Medical Genetics, rok: 2024, ročník: 61, vydání: 9, DOI
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Rare multi-fungal sepsis: a case of triple-impact immunoparalysis
Folia microbiologica, rok: 2024, ročník: 69, vydání: 4, DOI
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Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs
Nucleic acids research, rok: 2024, ročník: 52, vydání: 10, DOI
2023
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Catechol-O-methyl transferase suppresses cell invasion and interplays with MET signaling in estrogen dependent breast cancer
Scientific Reports, rok: 2023, ročník: 13, vydání: 1, DOI
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Cílená detekce somatických mutací u pacientů s ameloblastomem: série případů
Rok: 2023, druh: Konferenční abstrakty