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Associate Professor Maria Fuller

BAppSc, MAppSc, PhD, FFSc(RCPA)

Maria graduated from the University of Adelaide in the discipline of biochemical genetics. Following post-doctoral training, she established a research group focused on understanding the cascade of events that lead to pathology in a group of inherited metabolic disorders. She currently holds a translational role in Genetics and Molecular Pathology within the South Australian Pathology service to deliver research outcomes into the diagnostic arena.

With the implementation of a mass spectrometry platform, several inherited metabolic disorders can be diagnosed by measuring biomarkers in just 0.01 mL of plasma – a considerable advantage for the paediatric patient. The use of a multiplex platform has improved the efficiency of diagnosis and facilitated ongoing biochemical monitoring for patients with inherited sphingolipid storage disorders. In 2017 a novel urine screening method, again using mass spectrometry, was introduced into the diagnostic service that can identify all mucopolysaccharidoses subtypes. This same technology is employed to monitor treatment response for the ‘first-in-man’ gene therapy trial for mucopolysaccharidosis type IIIA.

In addition to translating her research findings into the diagnostic setting, Maria has published 70 articles, attracted $3 million in competitive research funding, supervised 15 postgraduate students from all three universities within South Australia, and enjoys providing a training arena for future medical laboratory scientists by hosting their undergraduate placement within her laboratory. Maria regularly reviews manuscripts for scientific journals as well as grant and fellowship applications, and serves on the editorial board of Metabolites. Maria achieved her fellowship with the Royal College of Pathologists in Australia and was appointed to the Bellberry committee in 2016. Her current research interest is to investigate the role of lipids in neurological development associated with inherited metabolic disorders.