Main areas of scientific research activities

The main areas of scientific activity are research focused on the development of modern diagnostic methodologies based on the principles of molecular cytogenetics and molecular karyotyping and their use for the purposes of clinical genetics and oncology.

Since 1998, the techniques of metaphase and interphase fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), spectral karyotyping (SKY) and array-CGH and MLPA technologies have been used and intensively developed in our laboratory. In 2015, we started using next-generation sequencing (NGS) technology and in 2023 we are introducing optical genome mapping (OGM) technique.

Using these methodologies, we are studying structural and numerical abnormalities of chromosomes in relation to the pathogenesis of major genetic diseases and certain cancers. Accurate karyotype analysis is used to establish or refine the diagnosis and in oncology also to monitor the success of therapy in patients with various types of cancer.

The specific results of our research are reflected in the rapid introduction of specialized molecular cytogenetic examinations into clinical practice within the Institute of Medical Genetics and other departments of the Brno University Hospital. We develop our scientific research activities within our own professional projects or by participating in grant activities and research plans of other MU Brno departments.

In recent years, we have been actively involved in rare genetic diseases of childhood.

Current research

• Project "The role of pathogenic genetic variants detected by exome sequencing in the etiology of childhood neurodevelopmental diseases". The main goal of this research is to increase the level and efficiency of molecular diagnostics in pediatric patients with severe neurodevelopmental disorders (NDDs) using exome sequencing
• Project "Next generation cytogenetics: Optical Genome Mapping (OGM) in Routine Human Cytogenetic Diagnostics". The aim of the project is to introduce and use OGM technology for the detection of chromosomal aberrations in pediatric patients with focal stigmata, congenital neurodevelopmental disorders