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Project

Tracer Based Clinical Diagnostic Platform

Inborn errors of energy metabolism are a broad group of diseases caused by mutations in several hundreds of genes involved in energy production. Remarkably little is known about the types of biochemical adaptations that occur in these patients. Therefore, the majority of these patients are simply treated with IV glucose during life-threatening metabolic energy ‘crises’. In this first of its kind approach we will introduce 13C metabolomics to patient fibroblasts to 1) study how specific deficiencies alter global metabolism, 2) apply this information to the diagnostics of these disorders, and 3) guide personalized diet/treatment. Preliminary data strongly supports our approach: patient derived fibroblasts with respiratory chain defects manifested distinct metabolic features, including a severe block in glucose uptake by the TCA cycle.
Date:1 Oct 2017 →  30 Sep 2021
Keywords:tracer
Disciplines:Cardiac and vascular medicine