Driven by the rapid evolution of Next-Generation Sequencing, an explosive amount of genetic variants are being uncovered. To aid the identification of pathogenic variants herein, model systems have an instrumental role. Zebrafish are elegant model systems for functional genetics due to their reproductive capacity, external fertilization and development, optical transparency and amenability to genetic modification. Besides the use of zebrafish for functional genomics, we are also using this model to answer fundamental questions.

The aim of this program is to make use of genome-modifying technologies in zebrafish to:

• characterize disease-causing genetic variants
• understand pathophysiology using genetic disease models
• screen for novel therapeutic approaches

Our focus is on, but not restricted to neurological diseases (small-fiber neuropathy). We are also working on disease models in cardiogenetics and metabolic diseases (galactosemia and mitochondrial disorders).