Lekárska genetika a diagnostika 2/2026

Diagnostics of rare diseases at the Department of Human Genomics, UKTV BMC of the Slovak Academy of Sciences

Rare diseases represent a significant health and social problem, as their clinical heterogeneity and non-specific symptoms often complicate the establishment of a diagnosis, which is nevertheless crucial for prognosis, treatment selection and genetic counselling. The Department of Human Genomics at the Institute of Clinical and Translational Research, Biomedical Centre of the Slovak Academy of Sciences, has been addressing the issue of genetically determined diseases for more than four decades. The unit is one of the pioneers of DNA diagnostics in Slovakia, and its research focuses on integrating experimental, diagnostic and bioinformatic approaches with the aim of translating new findings into clinical practice. A significant part of its activities involves research into monogenic disorders, including metabolic, neuromuscular, neurological, immunological and congenital syndromes. The unit contributes to the identification of causal and moderating genetic variants, the characterisation of the mutation spectrum in the Slovak population, and the resolution of previously undiagnosed cases. Long-term research into alkaptonuria represents a particularly significant contribution; this includes genetic diagnosis, the creation of an international database of HGD gene variants, and collaboration on the clinical development of treatments for this condition. The current priority is the implementation of comprehensive genomic analyses into clinical diagnostics. The VEGA- 2/0114/24 project investigates the possibilities and limitations of transitioning from exome sequencing to whole-genome sequencing in patients without a clear diagnosis. WGS enables the detection of a broader spectrum of genetic variability, including non-coding regions, CNVs, tandem repeats and structural variants, thereby potentially increasing diagnostic success rates. The unit’s activities also include the development of bioinformatics tools, the standardisation of genomic methodologies and the formulation of recommendations for clinical laboratories. In parallel, the unit is engaged in translational research into complex diseases with the aim of utilising genetic and epigenetic biomarkers in diagnosis, risk prediction, prevention and personalised treatment.

Keywords: rare disease, DNA analysis, whole genome sequencing, bioinformatic tools, polygenic risk score