Background The advance of next generation sequencing has resulted in the identification of many new disease associated gene mutations. However, validating the function of these variants, particularly in rare diseases, is still a challenge. Recent advances in targeted mutagenesis technology have led to the development of zebrafish models of human disease. Zebrafish have rapid early development, transparent embryos, and large clutch sizes making them suitable for high throughput drug screening and quick, in vivo testing of the consequences of newly identified gene mutations.
Objectives Our goal is to use the expertise and infrastructure at the Hospital for Sick Children to establish a Zebrafish Genetics and Disease Models Core Facility, accessible to researchers worldwide, that provides all the services required to generate and analyse zebrafish models of human disease at the highest quality, most affordable prices and most efficient time frame.
Design/methods Our facility provides targeted mutant generation and phenotype analysis services for a reasonable fee as part of our cost-recovery business plan.
Results The core facility leadership has exemplary experience in zebrafish mutant generation and characterisation as well as the use of zebrafish for drug discovery. Examples of our initial zebrafish mutants created to model and study human diseases will be presented.
Conclusions Our facility provides high quality, cost efficient services for generating and analysing zebrafish models of human disease. These models can be used both as a validation tool to complement human disease studies using next generation sequencing and to identify new disease treatments via high throughput drug screening.
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