Our research is patient orientated. We are committed to research of paediatric eye diseases at the highest standard and using state-of-the-art technologies. We conduct clinical research, laboratory based basic research and community research.
Studying the diagnostic and clinical utility of genome sequencing for genetic diagnosis of children with rare diseases including retinoblastoma.
Development of advanced bioinformatic analysis pipelines and in-house database for the analysis of disease-causing copy number variants, structural rearrangements and single nucleotide variants.
Translation and implementation of genome sequencing into the clinical practice
We conduct patient-orientated research to reveal the underlying pathogenesis and advance clinical care of various childhood kidney conditions. The team has a leading role in the field of paediatric nephrology, in particular glomerular disease, by establishing an international collaborative network of more than 30 centres worldwide.