Maria Fuller

Professor Maria Fuller is a clinical scientist specializing in biochemical genetics within the Genetics and Molecular Pathology department at the University of Adelaide's Adelaide Medical School. She leads diagnostic laboratory services for inherited metabolic disorders through SA Pathology, serving patients across Australia with a focus on rare diseases including lysosomal storage disorders.

Her research centers on understanding pathological cascades in inherited brain disorders, particularly those causing neurological regression in childhood. Key interests include developing multiplexed biomarker platforms for efficient diagnosis, investigating gene therapy efficacy through clinical trials, and studying disease progression in mouse and cell models to identify irreversible neurological damage. Her work aims to develop adjunct therapies that complement gene replacement approaches.

• Primary research goal: Improve diagnosis efficiency, understand pathology, and develop therapeutic strategies for inherited metabolic disorders
• Focus on neurological manifestations where disease burden is greatest in childhood
• Investigates irreversibility of neurodegenerative decline using neuronal culture models

Professor Fuller has contributed over 100 scientific publications and book chapters. She received the 2022 AACB Roman Lecture award for her teaching and mentoring excellence.

• Supervises postgraduate students and provides clinical placements for undergraduates
• Leads the National Referral Laboratory for diagnostic services in inherited metabolic disorders

Her laboratory operates at the intersection of clinical diagnostics and translational research, bridging biomarker discovery in model systems with direct patient applications through SA Pathology's diagnostic services.