Medical Genomics - Šárka Pospíšilová
Medical Genomics - Šárka Pospíšilová


Prof. Šárka Pospíšilová, Ph.D. Prof. Šárka Pospíšilová, Ph.D.
Research Group Leader, Head of Research Centre, associate professor

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. 


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