Innovative ATMP for Rare Disease | CREATIC

Ultra-Rare Diseases and Undiagnosed Pediatric Patients.

Mission

To transform outcomes for patients with rare diseases by advancing innovative gene, cell, and immune-based therapies from discovery through clinical application, delivering precise treatments with curative potential for unmet medical needs.

Research Focus

The group is dedicated to developing advanced therapies for high-risk pediatric tumours and rare diseases by leveraging cutting-edge approaches in cancer research, gene editing, and immune cell engineering. The work spans translational research, product development, and production of advanced investigational medicinal products, aiming to provide innovative treatments for both pediatric and adult patients with unmet medical needs. The team focuses on delivering precise, targeted therapies that have the potential not only to treat but also to cure select cancers and rare diseases.

Key Research Questions

Can we develop effective ATMP for children with neuroblastoma?
How can we make cell-based therapies more potent and reliable?
How do patient biology, prior treatment, and manufacturing conditions influence the quality and efficacy of a personalized cell therapy?
How can gene therapy be used for otherwise difficult-to-treat pediatric cancers?
Can we exploit immune activation synergistically with ATMP-based immunotherapy to improve treatment of high-risk pediatric cancers?

Approach & Integration

The research group is an integral part of CoE CREATIC, Faculty of Medicine, at Masaryk University.

Specialized Expertise & Technology

Medical genomics techniques including next-generation and long-read sequencing (including rapid trio setting), RNA sequencing, single-cell and spatial transcriptomics, and methylome profiling.
Functional genomics and genome modifications (CRISPR/Cas9).
Processing of challenging biological material for genomic analyses (liquid biopsy, FFPE tissue samples).

Research Group Leader

MUDr. Kateřina Slabá, Ph.D.

Role

Physician, Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University | Head of the Outpatient Clinic for Undiagnosed Pediatric Patients.

Contact Information

Office:

Children’s Hospital, pavilon G, Cernopolni 212/9, 613 00 Brno, Czech Republic.

Phone:

+420 532 234 948

Email:

slaba.katerina@fnbrno.cz

Selected Publications

Sustrova E, Rihova K, Pokorna P, Havlova V, Stiborek M, Simek Z, Damborsky J, Horak O, Kozelkova K, Hlouskova E, Demlova R, Kubatova J, Slaby O, Slaba K. Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants. BMC Med Genomics. 2026 May 27;19(1):117. doi: 10.1186/s12920-026-02394-7.
Turan K, Pokorna P, Rihova K, Kubatova J, Kozelkova K, Hlouskova E, Danhofer P, Jabandziev P, Damborsky J, Demlova R, Slaby O, Slaba K. Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant. Clin Case Rep. 2026 Apr 3;14(4):e72146. doi: 10.1002/ccr3.72146.
Slaba K, Pokorna P, Jugas R, Palova H, Prochazkova D, Aulicka S, Spanelova K, Danhofer P, Horak O, Tuckova J, Kleiblova P, Gaillyova R, Hrunka M, Jouza M, Pinkova B, Papez J, Konecna P, Zidkova J, Stourac P, Sterba J, Demlova R, Demlova E, Jabandziev P, Slaby O. Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases. Sci Rep. 2024;14(1):28780. DOI: 10.1038/s41598-024-79872-4
Slaba K, Jezova M, Pokorna P, Palova H, Tuckova J, Papez J, Prochazkova D, Jabandziev P, Slaby O. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? Mol Genet Genomic Med. 2023;e2139.
Slaba K, Noskova H, Vesela P, Tuckova J, Jicinska H, Honzik T, Hansikova H, Kleiblova P, Stourac P, Jabandziev P, Slaby O, Prochazkova D. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Front Genet. 2020;11:561054.

Grant Projects

Beyond the Exome: Integrating Precision Genomics and Functional Validation in Exome-Negative Undiagnosed Pediatric Patients (NW26J-0700126) | Principal Investigator: MUDr. Kateřina Slabá, Ph.D., Faculty of Medicine | Project Period: 2026 — 2029 | Investor: AZV ČR (junior grant)
Rapid whole-genome sequencing as a diagnostic approach for acute care and treatment of critically ill neonates and children, SEQCURE (NW25-07-00217) | Team member, Faculty of Medicine | Project Period: 2025 — 2028 | Investor: AZV ČR (standard grant)
CREATIC — Central European Advanced Therapy and Immunotherapy Centre (Grant agreement no. 101059788) | Team member, responsible for pediatric rare diseases, Faculty of Medicine | Project Period: ongoing | Investor: European Union, Horizon Europe Coordination and Support Action
JARDIN Joint Action (JA) — Czech Republic | Team member, WP7 (National Reference Centres and Undiagnosed Diseases), Všeobecná fakultní nemocnice Praha | Project Period: ongoing | Investor: EU4Health

Collaboration

Institute of Biology and Medical Genetics (Assoc. Prof. Petra Kleiblová), First Faculty of Medicine, Charles University
Department of pediatrics and inherited metabolic disorders (prof. Tomáš Honzík), General University Hospital in Prague
Ondřej Slabý research group, Department of Biology, CREATIC LF and CEITEC MU
ERDERA — European Rare Disease Research Alliance - deputy national delegate for the Czech Republic (representing prof. Milan Macek)
Kompas foundation and Malý odyseus patient organization (rare disease patient advocacy)

Team

Doctoral Students

MUDr. Eva Šustrová (PhD student, Department of Pediatrics, University Hospital Brno, Faculty of Medicine, CREATIC, Masaryk University)
MUDr. Beáta Krejčířová (Department of Pediatrics, University Hospital Brno, Faculty of Medicine, CREATIC, Masaryk University)