I am a research associate working in the Wellcome Trust Centre for Mitochondrial Research at the Institute of Genetic Medicine on a project led by Prof. Rita Horvath. I joined the Institute of Genetic Medicine in 2007 after finishing my PhD in Munich, Germany, and in 2014 I moved to Prof. Horvath’s research laboratory. Previously, I worked in the field of inherited neuromuscular diseases and used zebrafish as animal model.
My current project aims to develop cell culture and animal models to help us understand disease mechanisms. On this project I am working together with Drs. David Burns, Michele Giunta and Veronika Boczonadi.
Zebrafish as model for mitochondrial and RNA metabolism related disorders
Principal Investigators: Prof. Rita Horvath
In my project I am developing different cell culture and animal models that will help us to elucidate how mutations identified in patients with different neurological disorders lead to disease symptoms. As most of the diseases affect neuronal tissue, we are currently reprogramming fibroblasts from patients and healthy controls to neuronal progenitor cells. In addition, we are using zebrafish to model the disorders. Zebrafish are becoming increasingly popular as animal model due to their transparency at young age and the possibility to perform supplementation assays or drug tests by adding substances to the tank water. By using the Crispr/Cas9 system, we have created several zebrafish mutant strains for genes causing either mitochondrial disorders or severe infantile pontocerebellar hypoplasia type 1 (PCH1) with hypomyelination. Currently we are characterising pathogenic mechanisms in these zebrafish disease models; in the future, we are planning to use zebrafish for supplementation analysis and drug discovery.
Sponsor/funder: Wellcome Trust Investigator Grant to Prof. Rita Horvath