Maria Fuller

Maria Fuller

Adelaide Medical School

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.

Professor Maria Fuller BAppSc, MAppSc, PhD, FFSc(RCPA)
Genetics and Molecular Pathology,
SA Pathology, Adelaide, South Australia

Maria Fuller is a clinical scientist specialising in biochemical genetics within Genetics and Molecular Pathology at SA Pathology that provides a clinical diagnostic laboratory service for inherited metabolic disorders for patients throughout Australia. Her laboratory is committed to improving the efficiency of diagnosis of these rare diseases, notably lysosomal storage disorders, by employing platforms of multiplexed biomarkers characteristic for the specific types and sub-types of disease. Her laboratory’s research interests centre on understanding the cascade of events that lead to pathology, with a particular focus on the brain, and new approaches for the treatment and diagnosis of these inherited metabolic disorders. Her laboratory has contributed 100 articles and book chapters to the scientific and medical literature.

In addition, Maria also holds an academic title at the University of Adelaide and enjoys supervising post-graduate students, as well as providing training for undergraduate students by hosting clinical placements within her laboratory. Maria has been awarded the 2022 AACB Roman Lecture in recognition of her teaching and mentoring role.

The National Referral Laboratory ( provides diagnostic service provisions for patients with inherited metabolic disorders. Our primary research goal is to improve the efficiency of diagnosis, understand pathology and investigate therapeutic strategies. In particular, the laboratory's interest lies in inherited brain disorders which despite presenting throughout life, disease burden is greatest in childhood. Neurological regression is relentless with a loss of acquired skills such as the ability to speak, walk, eat, and has a devastating impact on the child and family. There are no cures and as yet no treatment for the progressive decline in brain function.

Gene therapy has been touted for treating such diseases by replacing the defective gene with a functional one. Our laboratory is involved in gene therapy clinical trials by measuring disease biomarkers from enrolled patients to assess therapeutic efficacy of the gene therapy treatment. However, as therapy begins following diagnosis, when patients are symptomatic, treatment is challenged with reversing pathology that is already entrenched. At best then, treatment may only be able to halt disease progression and stabilise the disease.

To address this we are performing a number of parallel studies in mouse and cell models of these genetic disorders, to learn more about the progression of the neurological process and the irreversibility of disease. Biomarkers of disease activity can then be translated into our diagnostic pathology service for use in patients. Studies in cell models, including neuronal cultures, can inform on mechanisms of disease to learn more about the neurodegenerative decline and open up new avenues for treatment and adjunct therapies to complement gene therapy approaches. The laboratory has a number of higher degree research projects in these areas to join three post-doctoral scientists working in these areas.

  • Appointments

    Date Position Institution name
    2019 - ongoing Affiliate Professor, Adelaide Medical School University of Adelaide
    2018 - ongoing Clinical Scientist, Biochemical Genetics, Head, National Referral Laboratory and Head Translational Research Unit, Genetics and Molecular Pathology SA Pathology
  • Awards and Achievements

    Date Type Title Institution Name Country Amount
    2018 Research Award AACB Roman Lecture Awardee for 2022 Australasian Association for Clinical Biochemistry and Laboratory Medicine Australia
    2015 Award Staff Excellence Award for Innovation and Service Improvement SA Pathology Australia
    2008 Award Career Development Award National Health and Medical Research Council (NHMRC) Australia
    2006 Award MS McLeod Medal for Research Excellence Women's and Children's Hospital Australia
    2002 Award Achievement award for medical research presented by the Honourable Lord Mayor in Adelaide City of Adelaide Australia
    2000 Award Best Presentation Award Australian Society of Medical Research Symposia Australia
  • Education

    Date Institution name Country Title
    2015 Royal College of Pathologists of Australasia Australia FFSc (Research)
    University of South Australia Australia B App Sc
    University of South Australia Australia M Sc
    University of Adelaide Australia PhD
  • Postgraduate Training

    Date Title Institution Country
    FFSc (RCPA) Royal College of Pathologists of Australasia Australia
    Radiation License Environmental Protection Authority Australia

Prof. Fuller has attracted more than $4 million in competitive research funding through national and local funding schemes such as the National Health and Medical Research Council, Women’s and Children’s Hospital Research Foundation, Channel 7 Children’s Research Foundation, Sanfilippo Children’s Foundation and the National Heart Foundation, as well as internationally through the US MPS Society and The Centre for Orphan Disease Research and Therapy (University of Pennsylvania) as well as commercial funding through pharmaceutical companies and clinical trial sponsors.

Prof. Fuller is an accomplished teacher and mentor, having successfully supervised undergraduate, Honours, and HDR students:

  • Undergraduate Genetics III student placements (2016-current)
  • Eighteen Honours students (two current)
  • Three Masters students (two current)
  • Four PhD students (one current) completed
  • Current Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2022 Co-Supervisor Exploring the cell pathology of Gaucher disease Doctor of Philosophy Doctorate Full Time Miss Ashleigh Lake
    2020 Co-Supervisor Characterisation of the biochemical and functional phenotype of the brain and primary neuronal cultures to further understand the neuropathology in a childhood inherited neurodegenerative disorder. Doctor of Philosophy Doctorate Full Time Miss Kleopatra Pericleous
  • Past Higher Degree by Research Supervision (University of Adelaide)

    Date Role Research Topic Program Degree Type Student Load Student Name
    2006 - 2014 Co-Supervisor Substrate Localisation as a Therapeutic Option for Pompe Disease Doctor of Philosophy Doctorate Full Time Mr Christopher Turner
    2005 - 2009 Principal Supervisor Identification and Characterisation of Endoglycosidase Activities Towards Dermatan Sulphate by Tandem Mass Spectrometry Doctor of Philosophy Doctorate Full Time Mr Timothy Nielsen
  • Board Memberships

    Date Role Board name Institution name Country
    2020 - 2020 Member Review and Assessment Board TV3 Marato on Rare Diseases Spain
    2019 - ongoing Board Member Fabry disease Lysosomal diseases Australia
    2019 - ongoing Advisory Board Member Gaucher disease Lysosomal diseases Australia
  • Committee Memberships

    Date Role Committee Institution Country
    2019 - 2019 Member Steering Committee Fabry MasterClass (Europe) Netherlands
    2019 - ongoing Member Steering Committee Lysosomal Storage Disorder Summit (Australia) Australia
    2018 - 2021 Member Faculty European Symposium on Lysosomal Storage Disorders Germany
    2017 - 2017 Member Scientific Advisory Committee The 2nd International Electronic Conference on Metabolomics Australia
  • Editorial Boards

    Date Role Editorial Board Name Institution Country
    2018 - ongoing Editor Metabolites Journal MDPI Switzerland
    2018 - 2018 Editor 2018 Paediatric Resource Centre Molecular Genetics and Metabolism Australia
  • Offices Held

    Date Office Name Institution Country
    2019 - ongoing Academic Lead, MBBS Admissions Working Group University of Adelaide Australia
  • Review, Assessment, Editorial and Advice

    Date Title Type Institution Country
    2018 - ongoing Laboratory Assessor Advice National Association of Testing Authorities (NATA) Australia
    2017 - 2019 Reviewer and Scientific Committee Member Peer Review Bellberry Human Ethics
    2015 - ongoing Manuscript Reviewer Journal Review Analytical Chemistry, Australian Journal of Medical Science, Biochemical Journal, Biochimica Biophysica Acta, BioScience Reports, Clinical Biochemistry, Clinical Chemistry, Clinical Chemistry and Laboratory Medicine, European Journal of Human Genetics, Expert Review of Endocrinology and Metabolism, Heart, Human Genetics, Journal of Chromatography, Journal of Inherited Metabolic Disease, Molecular Genetics and Metabolism
    2015 - ongoing Reviewer for Grant Funding Applications and Postdoctoral Fellowships Grant Assessment NHMRC, WCH Research Foundation, Channel 7 Children’s Foundation, Sanfilippo Children’s Foundation (Australia), US MPS Society, Human Frontiers Science Program (Europe), UK Leukemia and Lymphoma Research, Canadian Institutes of Health Research and Vaincre les Maladies Lysosomales (France), ZonMw (The Netherlands) Slovak Academy of Sciences and the Ministry of Science and Technology (Taiwan).

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