Medical Genomics – Šárka Pospíšilová

• Cancer genome studies including cancer clonal evolution
• Identification and analyses of genes with prognostic relevance in haematological malignancies
• Immunoglobulin gene analysis in lymphoproliferative disorders
• Development of bioinformatics tools for marker analyses in diagnostics and research
• Direct application of genomic analyses in clinical practise

• Detection of genetic defects (of both inherited and somatic origin) related to of development cancer and other severe diseases
• Introduction of high-throughput technologies for human genome analyses (whole genome/exome sequencing, transcriptome profiling, microRNA detection, gene panel and amplicon sequencing etc.) into medical research and diagnostics, development of new diagnostic approaches and therapeutic protocols
• Identification and analyses of novel diagnostic and prognostic markers and therapeutic targets in tumour cells with a focus on leukaemias and lymphomas; analyses of pathogenesis of these diseases
• Delineation of immune cell biology and pathogenesis of B-cell malignancies (genomic analyses of patients with lymphoproliferative disorders, functional studies, immunoglobulin genes analyses)

Normal-to-malignant cell transformation may be underlain by many different mechanisms that typically 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 been described already and are routinely analysed in oncological diagnostics, e.g. TP53, ATM or BRCA1/2 gene mutations or specific translocations occurring in leukemias, lymphomas and other tumours.

There is an obvious need to study also the importance of many other genomic aberrations observed in tumours and their influence on the malignant potential of transformed cells.

Novel technologies including high-throughput genome sequencing (also called massive parallel sequencing) provide fast and complex view into the human genome. They are used to characterise genetic information of patient‘s normal and malignant cells to reveal mechanisms of cellular transformation.