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Examining Blood Sample

Biomarker research utilizing proteomics


Children's Hospital Colorado in collaboration with the University of Melbourne


Using proteomics to diagnose ARS2 disorders

Project Cost

$100,000 over 1 years

Date Awarded

July 2023

Planned Completion

July 2024

Project Overview

The mitochondrial ARS disorders are not sensitive to traditional mitochondrial disease diagnostic testing. This research project could produce a novel diagnostic test that could measure mitochondrial functional abnormalities in a particular patient. This research could aide in identifying severity of disease and determining if a variant of unknown significance (VUS) is disease causing or benign.

Why is this relevant to treatment?

Create animal models, one with loss of expression of each ARS2 gene, using C. elegans, which are microscopic worms. Each ARS2 gene knockdown model will be studied to understand their level of mitochondrial dysfunction and influence on overall animal health.  Based on these results, stable genetic mutant worm and zebrafish models will be generated and characterized for representative ARS2 genes.

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