# Resource of zebrafish models of human diseases

> **NIH NIH R24** · UNIVERSITY OF OREGON · 2024 · $743,926

## Abstract

PROJECT SUMMARY/ABSTRACT
The diagnosis of rare diseases has seen enormous gains from the advent of whole-exome and whole-genome
sequencing as clinical diagnostic tools. However, due to the large number of rare variants of unknown
significance found in poorly characterized genes, there is a significant need for functional annotation of genes
and variants. Model organism research has proven to be one of the most cost-effective methods to annotate
genes and understand the biology underlying gene function and disease. This project will develop a resource
of rigorously validated, translatable zebrafish models of previously undiagnosed human genetic diseases.
Clinical and genetic information about new cases of undiagnosed rare human diseases will be obtained
through collaboration with the clinical sites of the Diagnostic Centers of Excellence (DCoEs) and the Genomics
Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium. A bioinformatics pipeline will be
used to analyze and prioritize variants obtained from the patients for further study. Then humanized zebrafish
genetic models of the selected gene variants will be generated using a new CRISPR/cas9 homologous
recombination technology. The models will be validated by sequencing and phenotypic characterizations
including molecular phenotypes. The resource of humanized animal models will be made available to the
research community through the Zebrafish International Resource Center (ZIRC), and the accompanying
genetic and phenotypic metadata will be deposited at the Zebrafish Information Network (ZFIN) and the
Alliance of Genome Resources.

## Key facts

- **NIH application ID:** 10795508
- **Project number:** 1R24OD036061-01
- **Recipient organization:** UNIVERSITY OF OREGON
- **Principal Investigator:** Monte Westerfield
- **Activity code:** R24 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $743,926
- **Award type:** 1
- **Project period:** 2024-09-15 → 2028-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10795508

## Citation

> US National Institutes of Health, RePORTER application 10795508, Resource of zebrafish models of human diseases (1R24OD036061-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10795508. Licensed CC0.

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