Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies

J. Giacomotto

doi:10.1038/s41525-026-00608-6

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Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies

Journal article

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Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies

J. Giacomotto

npj Genomic Medicine, Vol.11, pp.1-4

2026

DOI: https://doi.org/10.1038/s41525-026-00608-6

PMID: 42575898

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Abstract

Comment

diseases

drug discovery

genetics

medical research

Genomic screening increasingly reveals variants of uncertain significance, forcing clinicians to make high-stakes decisions as million-dollar drug and gene-replacement therapies emerge. Rapid in vivo zebrafish assays can help to resolve variant pathogenicity within weeks, providing organism-level evidence that informs treatment decisions, prevents unnecessary interventions, and strengthens precision medicine.

Details

Title: Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies
Authors: J. Giacomotto (Corresponding Author) - University of the Sunshine Coast
Publication details: npj Genomic Medicine, Vol.11, pp.1-4
Publisher: Nature Publishing Group
Date published: 2026
DOI: 10.1038/s41525-026-00608-6
ISSN: 2056-7944
PMID: 42575898
Copyright note: This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
Data Availability: No datasets were generated or analysed during the current study.
Grants: ZebraClinics. From the identification of drugs against neurodegeneration to a better understanding of synaptic development and function., 1174145, National Health and Medical Research Council (Australia, Canberra) - NHMRC
Organisation Unit: Thompson Institute
Language: English
Record Identifier: 991253599302621
Output Type: Journal article

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