Partners
Biobank of the Biomedical Research Center of the Slovak Academy of Sciences, Bratislava
Basic Information
- Institution: Biomedical Research Center of the Slovak Academy of Sciences – Institute of Experimental Endocrinology
- Type of Biobank: Disease-oriented
- Address: Dúbravská cesta 9, 845 05 Bratislava
- Web: www.bmc.sav.sk
Contact
Director: RNDr. Daniela Gašperíková, DrSc. daniela.gasperikova@savba.sk
Coordinator for BBMRI.sk:
Mission
The Biobank of the Biomedical Research Center of the Slovak Academy of Sciences operates as a specialised facility focused on the collection, processing, and long-term storage of biological samples and associated clinical data in order to support excellence in biomedical research. Its mission is to contribute to the advancement of DNA diagnostics, to elucidate the molecular mechanisms of rare and hereditary diseases, and thereby to support more effective prevention and treatment.
The biobank actively participates in the translation of research findings into clinical practice and makes a significant contribution to the development of personalised medicine in Slovakia.
The biobank actively participates in the translation of research findings into clinical practice and makes a significant contribution to the development of personalised medicine in Slovakia.
Focus Areas
- Monogenic diabetes
- Congenital hyperinsulinism
- Monogenic obesity
- Primary mitochondrial disorders
- Sensorineural hearing loss
Collections
- DNA, clinical phenotypes
- RNA, PBMCs, fibroblast cell lines
Main Projects
- Research into the genetic causes of hereditary metabolic disorders with a focus on the functional analysis of novel variants
- Use of genetic risk scores to distinguish monogenic forms of diabetes from type 1 diabetes (T1D)
- Functional characterisation of novel variants associated with monogenic forms of diabetes
- Identification of genetic variants in syndromic and non-syndromic hearing loss using NGS
Unique Strengths
- Long-established cohort of rare diseases
- High-quality phenotypic and clinical data
- 400 patients registered in the National Registry of Rare Diseases (NHIC)
- Extensive long-term professional expertise
- EMQN certification (European Molecular Genetics Quality Network)
Collaborations
- National: National Institute of Children’s Diseases; University Hospital Bratislava and Faculty of Medicine, Comenius University Bratislava; outpatient specialists in endocrinology, diabetology, paediatrics, neonatology, and ENT specialists throughout Slovakia
- International:
Services and Infrastructure
- DNA/RNA isolation, sequencing
- Confocal microscopy, NGS iSeq
- GMO Class 1/2 laboratories
Access Policy
- Project collaboration