Rare Diseases National Biobank-Institute of Rare Diseases Research (Institute of Health Carlos III)

BioNER-IIER works to improve knowledge and management of Rare Diseases (RD). To achieve this, it has different strategies in the field of epidemiology, patient registration, diagnosis and research and integrates resources such as the ER Biobank (BioNER), the Patient Registry (RePER) and the Undiagnosed Cases Program (SpainUDP). Its objective is to address new challenges to provide definitive diagnoses of RD, demonstrating the pathogenicity of phenotype-genotype relationships of these diseases and working in the search for new therapies. It has on-demand services od RD Biobanking, as well as the generation of biomodels including cell lines, iPSCs, Organoids (liver, Brain…), as well as new ad-hoc animal models in Drosophila, as ideal tools to respond to these needs in relation to improving ER management.

Services

Biobank
• Sample collection
• Samples storage
• Disseminating biospecimens
• Processing of ER samples (blood, cells)
• Extraction of nucleic acids: DNA, RNA
Genetic Diagnostic Service
Development of Induced Pluripotent Stem Cells, iPSCs.
• Generation of iPSCs from fibroblasts
• Generation of iPSCs from blood cells

Organoid Development
• Generation of Liver Organoids
• Generation of Brain Organoids
• Distribution of Organoids (or material derived from them)

Animal models in Drosophila
• Design and cloning of CRISPR plasmids (avatar and non-avatar)
• Microinjection and generation of transgenic animals
• Sequencing and expression validation
• Phenotypic study
• Genetic or compound screening