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
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Středoevropský technologický institut
- MVDr. Boris Tichý, Ph.D.
- Spolupracující organizace
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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: 45
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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Desmocollin-1 is associated with pro-metastatic phenotype of luminal A breast cancer cells and is modulated by parthenolide
Rok: 2024, druh: Konferenční abstrakty
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Fecal tryptophan metabolite profiling in newborns in relation to microbiota and antibiotic treatment
Applied Microbiology and Biotechnology, rok: 2024, ročník: 108, vydání: 1, DOI
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Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients
Journal of Neuromuscular Diseases, rok: 2024, ročník: 11, vydání: 5, 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, ročník: 11, vydání: 6, 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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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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MicroRNA Analysis in Meningiomas with Different Degrees of Tissue Stiffness: A Potential Tool for Effective Preoperative Planning
Neurosurgery, rok: 2024, DOI
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Rare multi-fungal sepsis: a case of triple-impact immunoparalysis
Folia microbiologica, rok: 2024, ročník: 69, vydání: 4, DOI