Initially, our group focused on ncRNA biomarkers and therapies, building national and international networks, transferring technologies, and developing diagnostic kits. While still active, this is no longer our dominant research area.

We are pioneers in cancer genomics and precision oncology in the Czech Republic and the CEE region, having launched our program as the first of its kind in 2015. Currently, we provide advanced genomic testing using cutting-edge technological and bioinformatic approaches for two molecular tumor boards at University Hospital Brno, covering approximately 300 adult and 50 pediatric patients each year. Our primary goal is to identify optimal, individualized treatment strategies based on combinations of targeted therapies and immunotherapies, thereby generating a large, richly annotated dataset that is also valuable for secondary research use. In pediatric cases, the testing is considerably more complex (see figure below).

We are among the co-coordinators of the national GENESIS registry, which collects molecular and clinical outcome data from all seven MTBs across the Czech Republic. We closely collaborate with the CREATIC (https://creatic.muni.cz), where cutting-edge cell and newly emerging gene therapies are being developed at their GMP facilities.

In this area, we maintain numerous international collaborations with leading institutions worldwide. Beyond our work with individual patients—many of which are documented in case reports (e.g., Palova H et al, npj Precis Oncol, 2024; Pokorna et al, JCO Precis Oncol 2022)—we have also published one of the largest molecularly characterized pediatric cohorts to date (Pokorna et al, Lab Invest, 2024).

Future plans

Our current research focuses on understanding how the tumor microenvironment influences cancer progression and resistance to immunotherapy in pediatric tumors. In adult patients, we aim to identify predictors of treatment response to immunotherapy, especially in cases with intermediate TMB.

Our second major research stream focuses on applying state-of-the-art genomic and functional genomics approaches to rare diseases, primarily in undiagnosed pediatric patients. We provide comprehensive multi-omics diagnostics beyond the exome, combining WGS (short- and long-read), RNA sequencing, methylome profiling, and functional assays to reveal pathogenic mechanisms missed by routine testing. We lead BabyFox, a nationwide study on rapid whole-genome sequencing in critically ill neonates and children. There are analogous international programs like Baby Bambi (Israel), Baby Lion (Germany), and others. We are part of the GiICS European Consortium coordinating these initiatives. Our interim results were presented at ESHG 2025. Based on our pilot work, the first and only Outpatient clinic for undiagnosed pediatric patients was established at University Hospital Brno, now caring for over 200 children enrolled in our research project. Together with CREATIC, we are building a national registry for undiagnosed pediatric patients, piloting a future nationwide strategy. Beyond advanced genomics and bioinformatics, we employ functional genomics to study candidate variants of uncertain significance. This comprehensive program is unique in the Czech Republic, attracts patients from across the country, operates fully beyond the current standard of care, and is not covered by public health insurance. In this field, we also collaborate with leading global players in genomics on the development and early testing of new technologies; for instance, we are working with Illumina’s R&D center in Cambridge, UK, to evaluate their novel Constellation sequencing platform.

Future plans

We plan to develop a drug repurposing pipeline that leverages AI-based approaches, followed by experimental validation and clinical application in individual patients.