Abstract
Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work. Model organism genetics can offer a straightforward experimental setup for hypothesis testing. Containing orthologs for over 80% of the genes involved in human diseases, zebrafish (Danio rerio) has emerged as one of the top disease models over the past decade. A plethora of genetic tools makes it easy to create mutations in almost any gene of the zebrafish genome and these mutant strains can be used in high-throughput preclinical screens for active molecules. As this small vertebrate species offers several other advantages as well, its popularity in biomedical research is bound to increase, with “aquarium to bedside” drug development pipelines taking a more prevalent role in the near future.
Highlights
Rare diseases, namely conditions with incidence rates lower than 1:2000 affect an estimated350 million people worldwide
One out of 15 infants born worldwide will be affected by a rare hereditary disease during their lifetime [5]. 50–75% of these diseases affect children, and one third of children born with such a condition die before their fifth birthday [1]
The advent of novel methodologies (e.g., next-generation sequencing (NGS)) has made efforts to identify the genetic causes of rare diseases easier, faster and cheaper, yet an accurate molecular diagnosis is still far from trivial with our current knowledge [4]
Summary
Namely conditions with incidence rates lower than 1:2000 affect an estimated. Publication of the first detailed genetic maps [14,15,16,17] and sequencing the full diploid zebrafish genome [18] has made the previously challenging and tedious positional mapping of the mutations much more straightforward [19] Recent systematic efforts, such as the Zebrafish. (Note that the PedAM database contains 4542 unique disease concepts, but the majority of them are associated with multiple genes.) All these advantages, supplemented with an advanced genetic toolkit (see below) make zebrafish uniquely suited for studying human diseases, and for the screening of potential drugs [5,6]. That aim to study potential disease causing genes with the help of model organisms [6]
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