Ciliopathy Disease Modelling and Characterization Using Zebrafish


 

Katerina Apolínová (ESR14)

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Kateřina obtained her Bachelor’s degree in Molecular Biology and Biochemistry at Charles’ University in her hometown of Prague, Czech Republic. She then went on to continue her studies at the Sorbonne University in Paris, France, where she obtained a MSc. degree from an international program called From Molecular Developmental Biology to Biomedicine, Evolution and Systems Biology. During an Erasmus+ exchange in Maastricht, the Netherlands, she discovered her passion for biomedicine, which is why she applied for a position in SCilS. She is now pursuing an industrial PhD at ZeClinics, a biomedical company based in Barcelona, Spain, which uses zebrafish to provide a number of experimental services focused on analyzing the safety, efficacy and biomedical relevance of new compounds.

Abstract
The zebrafish, in combination with state-of-the-art genetic tools such as CRIPSR/Cas9, has emerged  recently as an extremely powerful model that allows for high-throughput research leading to the  understanding of complex diseases in the context of the entire organism. As the zebrafish is a  vertebrate model, possessing functional orthologs of roughly 80% of human disease-causing genes,  human disease modelling and drug discovery can be performed in the zebrafish with advantage.  

In this research project, CRISPR/Cas9 will be used to generate ciliopathy disease models in the  zebrafish, based on human multi-omics data provided by both the human genetics partners of the  ITN project and published literature. These models will then be characterized phenotypically in the  context of heart, central nervous system, eye, and kidney physiology, as these are the tissues most  often associated with ciliopathies. A special emphasis will be put on untangling the relationship  between primary cilia and cardiac regeneration, as this is a yet insufficiently explored field with major  implications for human regenerative medicine.