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Medical Genomics

Prof. RNDr. Šárka Pospíšilová, Ph.D.
Research Group Leader

THEMATIC RESEARCH FOCUS

RESEARCH AREAS

Introduction of high-throughput analyses into medical research and diagnostics, development of new diagnostic techniques
Identification and analysis of novel diagnostic and prognostic markers and therapeutical targets

MAIN OBJECTIVES

Introduction of high-throughput analyses of human genomes (whole genome/exom sequencing, transcriptome profiling, microRNA detection, SNP analysis, etc.). Utilization of these technologies in medicine and development of diagnostic tests based on high-throughput methods
Mutational analyses of human cells in relation to cancer, neuromuscular, neurodegenerative, metabolic and skin disorders; the detection of novel prognostic markers

CONTENT OF RESEARCH

Application of genomic approaches in cancer research and diagnostics

The transformation of normal to malignant cells may be caused by many different mechanisms that share a single common feature – the alteration of genetic information and subsequent disruption of cellular regulatory mechanisms, which thus lead to uncontrolled proliferation. Some of these genetic alterations have already been described and are routinely analysed in oncological diagnostics, e.g. TP53, ATM or BRCA gene mutations or specific translocations occurring in leukemias, lymphomas and other tumours. The importance of many other genomic aberrations found in tumours and their influence on the malignant potential of transformed cells should be analysed as well as the impact of individual genetic variants on tumour behaviour. Novel technologies including high-resolution SNP microarrays and high-throughput genome sequencing (massive parallel sequencing) provide fast and complex analysis of the human genome. These methods will be used to characterise genetic information of the patient‘s malignant and non-malignant cells to reveal the mechanisms of cellular transformation.

The expected outputs of this work package are:

1) the identification of recurrent genomic alterations in hematological and other malignancies, which could be used in cancer diagnostics and as a potential therapeutic target,

2) the analysis of the influence of the host genome on disease progression,

3) the characterisation of the regulatory pathways disrupted in tumour cells. The outcome of these studies is expected to be used as an initial point for focused research as well as for direct use in diagnostics of haematological and oncological malignancies.

Technologies used: massive parallel DNA sequencing (next-generation high-throughput sequencing), SNP mapping (high resolution SNP microarrays), gene expression profiling (microarrays, QRT-PCR), FACS, bioinformatic processing.

KEY RESEARCH EQUIPMENT

PLANNED RESEARCH INFRASTRUCTURE

Core Facility

The research group will be one of the principal users of the equipment available within CEITEC Genomics Core Facility.

CURRENT RESEARCH INFRASTRUCTURE

Molecular – biological diagnostic and research laboratory equipped with instrumentation for routine diagnostic tasks such as PCR, qPCR, DNA electrophoresis and DNA sequencing as well as equipment serving mainly for research needs such as microarray scanners (short and long oligonucleotide platforms) or nucleofector for high-efficient transfections.

MAIN PROJECTS

Analysis of changes in genome and its expression in chronic lymphocytic leukemia patients during the disease development (NS10439), Ministry of Health, 2009-2011, Šárka Pospíšilová, University Hospital Brno.
Functional and structural changes of microRNAs in lymphoproliferative malignancies and their impact on prognosis and prediction of therapy response (NT11218), Ministry of Health, 2010-2015, Šárka Pospíšilová, Masaryk University.
Functional and molecular characteristics of cancer and normal stem cells – identification of targets for novel therapeutics and therapeutic strategies (MSM0021622430), Ministry of Education, Youth and Sports, 2007-2013, Petr Dvorák, Masaryk University.
Real-time PCR kits for detection in oncology (FR-TI2/254), Ministry of Industry and Trade, 2010-2013, Martin Buncek, GENERI BIOTECH, Ltd., Šárka Pospíšilová, Masaryk University.
Support of professional growth and international integration of research in the field of molecular medicine CZ.1.07/2.3.00/20.0045), Ministry of Education, Youth and Sports, 2011-2014, Šárka Pospíšilová, Masaryk University.
Involvement of nuclear HMGB proteins in sensitizing of human cells to anticancer drugs inhibiting DNA topoizomerases (GAP301/10/0590), GACR, 2010-2012, Michal Štros, Institute of Byophysics AS CR, Šárka Pospíšilová, University Hospital Brno.

SELECTED PUBLICATIONS

TRBUSEK, M., SMARDOVA, J., MALCIKOVA, J., SEBEJOVA, L., DOBES, P., SVITAKOVA, M., VRANOVA, V., MRAZ, M., SKUHROVA FRANCOVA H., DOUBEK, M., BRYCHTOVA, Y., KUGLIK, P., POSPISILOVA, S., MAYER, J. Missense Mutations Located in Structural p53 DNA-binding Motifs Are Associated with Extremely Poor Survival in Chronic Lymphocytic Leukemia. J. Clinical Oncology. 2011, 29(19), p. 2703-2708.
MRAZ, M., MALINOVA, K., KOTASKOVA, J., PAVLOVA, S., TICHY, B., MALCIKOVA, J., STANO-KOZUBIK, K., SMARDOVA, J., BRYCHTOVA, Y., DOUBEK, M., TRBUSEK, M., MAYER, J., POSPISILOVA, S. miR-34a, miR-29c and miR-17-5p are down-regulated in CLL patients with TP53 abnormalities. Leukemia. 2009, 23(6), p. 1159-1163.
STROS, M., POLANSKA, E., STRUNCOVA, S., POSPISILOVA, S. HMGB1 and HMGB2 proteins up regulate cellular expression of human topoisomerase IIa. Nucleic Acids Research. 2009, 37(7), p. 2070-2086.
MALCIKOVA, J., SMARDOVA, J., ROCNOVA, L., TICHY, B., KUGLIK, P., VRANOVA, V., CEJKOVA, S., SVITAKOVA, M., SKUHROVA FRANCOVA, H., BRYCHTOVA, Y., DOUBEK, M., BREJCHA, M., KLABUSAY, M., MAYER, J., POSPISILOVA, S., TRBUSEK, M. Monoallelic and biallelic inactivation of TP53 gene in chronic lymphocytic leukemia: selection, impact on survival and response to DNA damage. Blood. 2009, 114(26), p. 5307-5314.
KOTASKOVA, J., TICHY, B., TRBUSEK, M., FRANCOVA, H.S., KABATHOVA, J., MALCIKOVA, J., DOUBEK, M., BRYCHTOVA, Y., MAYER, J., POSPISILOVA, S. High expression of lymphocyte-activation gene 3 (LAG3) in chronic lymphocytic leukemia cells is associated with unmutated immunoglobulin variable heavy chain region (IGHV) gene and reduced treatment-free survival. J Mol Diagn. 2010, 12(3), p. 328-334.

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