Zebrafish as a Model to Understand Human Genetic Diseases

Abstract Our collective knowledge of human genetic disease has increased dramatically over the past 30 years, with the rate of new gene discovery spiking as newer, more efficient genotyping methods are employed. Zebrafish have occupied a unique niche in this biological realm, providing a system in which the stereotypical vertebrate body plan is combined with large numbers of immediately accessible offspring in which to observe, characterize, and manipulate the genetic regulation of form and function. These features position zebrafish as a pivotal model organism for the diagnostic and therapeutic investigation of human genetic disorders. In this chapter, we outline the utility of the zebrafish model in studies of human genetic disease, highlighting some of the past contributions to the field and providing an overview of the current laboratory practices for basic and translational research into human disease genes.