Medical Genomics
Head: Šárka Pospíšilová
Brno node
HOME INSTITUTION
Faculty of Medicine MU/CEITEC MU
RESEARCH PROGRAMME(S)
RP 1 - Molecular basis of cancer and molecular targets
RP 3 - Biomarkers of cancers and cancer diagnostics
No two genomes are the same, every patient is unique!
- Mission: To discover what happens in the human genome before, during and after cancer treatment.
- Vision: Innovate diagnostic and therapeutic approaches in patient care.
In the Medical Genomics Research Group, we focus on questions related to the development and progression of hematological, especially hemato-oncological diseases, as well as some hereditary disorders that may be related to the development of cancer. Our work focuses on the identification and characterization of key genetic variants and chromosomal aberrations that influence cancer cell behavior and have a significant impact on patient prognosis and treatment. The aim of the research is to enable early detection of the disease (or predict its onset before the symptoms appear), to uncover the molecular causes of its development, to decipher the causes of resistance to treatment, and to propose therapeutic approaches. We do this using advanced molecular genetic and bioinformatics methods, linking information on genetic disposition with clinical data.
SELECTED PUBLICATIONS
- Malcikova J, Pavlova S, Kunt Vonkova B, Radova L, Plevova K, Kotaskova J, Dvorackova B, Zenatova M, Hynst J, Ondrouskova E, Panovska A, Brychtova Y, Zavacka K, Tichy B, Tom N, Pal K, Mayer J, Doubek M, Pospisilova S. Low-burden TP53 mutations in CLL: Clinical impact and clonal evolution in the context of different treatment. Blood. 2021, Dec 23;138(25):2670-2685. DOI: 10.1182/blood.2020009530
- Lobello C, Tichy B, Bystry V, Radova L, Filip D, Mraz M, Montes-Mojarro I, Prokoph N, Larose H, Liang H-Ch, Sharma G, Mologni L, Belada D, Kamaradova K, Fend F, Gambacorti-Passerini C, Merkel O, Turner S, Janikova A, Pospisilova S. STAT3 and TP53 Mutations Associate with Poor Prognosis in Anaplastic Large Cell Lymphoma. Leukemia. 2021, 35(5): 1500-1505. DOI: 10.1007/s00428-023-03644-0
- Navrkalova V, Plevova K, Hynst J, Pal K, Mareckova A, Reigl T, Jelinkova H, Vrzalova Z, Stranska K, Pavlova S, Panovska A, Janikova A, Doubek M, Kotaskova J, Pospisilova S. LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies. Journal of Molecular Diagnostics. 2021, 23(8):959-974. DOI: 10.1016/j.jmoldx.2021.05.007
- Malcikova J, Tausch E, Rossi D, Sutton LA, Soussi T, Zenz T, Kater AP, Niemann CU, Gonzalez D, Davi F, Gonzalez Diaz M, Moreno C, Gaidano G, Stamatopoulos K, Rosenquist R, Stilgenbauer S, Ghia P, Pospisilova S. ERIC Recommendations for TP53 Mutation Analysis in Chronic Lymphocytic Leukemia – Update on Methodological Approaches and Results Interpretation. Leukemia. 2018, 32(5): 1070-1080. DOI: 10.1038/s41375-017-0007-7
- Brazdilova K, Plevova K, Skuhrova Francova H, Kockova H, Borsky M, Bikos V, Malcikova J, Oltova A, Kotaskova J, Tichy B, Brychtova Y, Mayer J, Doubek M, Pospisilova S. Multiple productive IGH rearrangements denote oligoclonality even in immunophenotypically monoclonal CLL. Leukemia. 2018, 32(1):234-236. DOI: 10.1038/leu.2017.274
COLLABORATION WITHIN THE NICR
SPECIALIZED EXPERTISE AND TECHNOLOGY
Advanced methods of genome analysis (e.g., short and long read sequencing, single cell sequencing, chip technology, analysis of three-dimensional genome architecture)
Molecular biological diagnostics, analysis of functional impact caused by genomic variants
Population genomics
Genome editing (e.g., using CRISPR/Cas9)
Bioinformatics analysis
Cell culture (2D and 3D models)
Flow cytometry, confocal microscopy