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Biomarker research utilizing proteomics
INSTITUTION
Children's Hospital Colorado in collaboration with the University of Melbourne


PROJECT TITLE
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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