Genetic Predispositions to Hematologic Disorders

The research group focuses on uncovering the genetic predispositions to hematologic disorders, particularly rare inherited blood diseases and malignancies - including variants in genes such as DDX41, RUNX1, GATA2, CEBPA, and others - many of which manifest with low prevalence (below 1 in 2,000). Leveraging massively parallel sequencing (MPS) technologies and large-scale genomic projects like the 1000 Czech Genomes (A-C-G-T) initiative, the team aims to distinguish pathogenic from uncertain variants of varying significance, assess their functional and phenotypic impact (via approaches such as CRISPR/Cas9), and ultimately integrate these findings into precision medicine workflows to enhance diagnosis, surveillance, and risk assessment of blood-related diseases.