Thursday, August 21, 2025 8/21/2025

Resource of zebrafish models of human diseases

Award Number: R24OD036061
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/15/2024
PERIOD OF PERFORMANCE END DATE: 08/31/2028

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Resource of zebrafish models of human diseases - 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.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = $743,926 )
2025	2025	UNIVERSITY OF OREGON	1776 E 13TH AVE	EUGENE	OR	97403	LANE	USA	Research Infrastructure Programs	000	2	8/18/2025	NON-COMPETING CONTINUATION	$743,926
														Subtotal = $743,926

Issue Date FY: 2024 ( Subtotal = $743,926 )
2024	2024	UNIVERSITY OF OREGON	1776 E 13TH AVE	EUGENE	OR	97403	LANE	USA	Research Infrastructure Programs	000	1	9/5/2024	NEW	$743,926
														Subtotal = $743,926

Grand Total All Awards = $1,487,852

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Resource of zebrafish models of human diseases

Award Number: R24OD036061

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/15/2024

PERIOD OF PERFORMANCE END DATE: 08/31/2028

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