ESR14

Ciliopathies disease modelling and characterization using zebrafish

The zebrafish model provides deep biological information that allows understanding complex diseases in the context of a whole organism, while permitting fast experimental throughput. Additionally, high genome conservation with humans and availability of advanced genetic tools (i.e.: CRISPR) are positioning this model as the perfect tool for performing functional genomics, disease modelling and drug discovery. Hence, ESR14 will use zebrafish to generate, through CRISPR/Cas9, ciliopathy genetic disease models in zebrafish based on human multi-omics data provided by both the human genetics partners of this project and published literature. These models will be characterized phenotypically in the context of heart, CNS, eye and kidney physiology, which are target tissues classically associated to ciliopathies. On those validated models, ESR14 will perform transcriptomic analysis to discover innovative druggable targets, which will allow beginning phenotypic drug screenings – based on discovered targets and developed models – to discover potential therapeutic drugs reverting pathogenic phenotypes associated to cilia dysfunction.

Partner: ZeClinics S.L., Barcelona, Spain

Supervisor: dr J. Terriente