Dr Anthony Dona
Kolling Institute of Medical Research
Global Metabolic Profiling of Mitochondrial Diseases: A novel metabolomics approach to diagnose and differentiate between mitochondrial diseases using human serum and urine
Dr Anthony Dona works in the field of metabolic profiling at the University of Sydney’s Kolling Institute of Medical Research. He received his PhD in biochemistry in 2010 from the University of Sydney, and worked in Switzerland and London before returning to Sydney in 2014. With incubator funding from the Mito Foundation, Dr Dona is using the latest synthesis of biochemical analysis and statistical modelling to develop a non-invasive screening for mitochondrial disease (mito). His goal is to develop an inexpensive and easy test that can diagnose mito on a wide scale.
He used proton nuclear magnetic resonance (1H-NMR) to create a detailed profile of the small molecules in patients’ blood serum. 1H-NMR works by analysing the magnetic properties of atomic nuclei, providing a detailed molecular description of an individual’s blood. He collected 1H-NMR data from patients’ blood serum and submitted it to a statistical modelling technique called principal component analysis (PCA). PCA reveals the internal organisation of data and allowed Dr Dona to predict which patients had mito simply based on their blood profiles. He then established a correlation between clinical phenotype and the serum profile.
Dr Dona has identified common features in the blood of mito patients. These can be used to screen for mito in future patients. The test he developed displayed a sensitivity of 89 per cent for indicating the disease. His sample size is increasing all the time, further honing the precision of the blood test. His next step will be to create a similar model for urine samples.