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NIH Research Festival

September 16 – 18, 2015

Modeling Rare Human Diseases in Zebrafish

Thursday, September 17, 2015 – Poster Session II
12:00 – 1:30 p.m.

FAES Terrace

NHGRI

DEVBIO-4

Authors

  • JL Fohtung

Abstract

Within the National Institutes of Health (NIH), specialists across institutes especially in the Undiagnosed Disease Program (UDP) and National Human Genome Research Institute (NHGRI) collaborate and contribute their expertise to identify the underlying cause of referred patients’ diseases using a combination of careful clinical evaluation and modern genomic approaches such as exome sequencing. However, while exome sequencing and analysis techniques can provide strong correlational data between a specific gene variant and a disease state, it is rarely sufficient proof that such a variant is the cause of any observed pathology. Zebrafish has increasingly been used to model candidate causative genes for human diseases, as it holds distinct advantages over other vertebrate models. Zebrafish give large numbers of offspring, which develop in vitro, facilitating analysis of development by simple screening methods at all developmental stages, and high throughput methods exist to expedite such experiments. Importantly, there are currently highly effective methods for targeting specific genes for mutagenesis in the zebrafish. Here, we use CRISPR-CAS9 method of targeted mutagenesis to create zebrafish models for several UDP candidate causative genes, and show that this method is highly effective in creating mutations in specific genes of interest. We also describe results obtained upon the mutagenesis of one UDP candidate causative gene, GEMIN5, showing that the knockout of this gene causes juvenile mortality in the zebrafish. Experiments are on going to tie back these results obtained in the zebrafish to the human patient phenotype, thereby proving the importance of zebrafish models in diagnosing rare diseases.

Scientific Focus Area: Developmental Biology

This page was last updated on Friday, March 26, 2021

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