Jessenius Faculty of Medicine
in Martin
Comenius University in Bratislava

Department of molecular biological analyses

 

Head of division: RNDr. Tatiana Matáková, PhD.

 

Laboratory of Prenatal Diagnostics

Head of laboratory: MSc. Andrea Hornáková, PhD.

<output>MSc. Andrea Hornáková, PhD. </output>

Laboratory focuses on functional implementation of comparative genomic hybridization and whole genome sequencing into genetic prenatal invasive as well as non-invasive diagnos­tics. Scientific research is looking for optimal, especially non­-invasive methods of diagnostics of genomic, chromosomal and genetic disorders of fetus and also focuses on the search for markers indicating increased risk of selected pathological states development in new-borns as well as retinopathy in premature babies and genetic disorders of surfactant. For this purpose, the platforms Agilent Microarray Scanner and NGS equipment HiSeq and Ion Proton will be used. At present, the laboratory already carries out:

  • non-invasive determination of foetal RHD status and gender,
  • rapid prenatal diagnosis of amniotic fluid using QF-PCR method.

 

Laboratory of genetically heterogenic disorders

Head of laboratory: MSc. Jana Jurečeková, PhD.

Laboratory builds on the existing activities, especially on the research of diabetes, obesity, and their complications, such as hypertension, ischemic heart disease, coagulation disorders, and many other genetic disorders. The biobank is being created and are working on implementation of diagnostics of gene panels for selected candidate genes responsible for dilative, hypertrophic and restrictive cardiomyopathies as well as other heart diseases. Using the latest technologies of massive parallel sequencing (Next-Generation Sequencing, NGS), comparative genomic hybridization, analysis of microRNA expression patterns and other methods for determining the genetic basis of a wide range of diseases will enable more accurate diagnostics and will contribute to the personalization of a treatment.

 

Laboratory of genotoxicity and mutability

Head of laboratory: Assoc. Prof. RNDr. Ľudovít Mušák, PhD.

Genotoxicity lab focuses on the research of substances with genotoxic and carcinogenic effects on human body at molecular level, individually as well as coinciding with other risk factors. At present, it is unambiguously accepted that the increased occurrence of chromosome aberrations as well as other known genotoxic parameters is quantitative indicator of genetic damage to the hereditary material in persons exposed to mutagenic (Fig. 5, Fig. 6) or carcinogenic substances that may cause cell transformation and result in the development of malignancy.

Fig. 5 Visualization of sister chromatid exchange
Fig. 6 Multiply damaged chromosomes in person exposed to mutagen