Jennifer Saville

Research Interests

Analytical Biochemistry Brain Medical Biochemistry and Metabolomics Medical Biochemistry: Lipids

Dr Jennifer Saville

School of Medicine

College of Health

Eligible to supervise Masters and PhD (as Co-Supervisor) - email supervisor to discuss availability.

Jennifer Saville is a scientific lead for SA Pathology's National Referral Laboratory for lysosomal and related disorders (https://www.wch.sa.gov.au/professionals/screening-and-testing/national-referral-laboratory). Jennifer specialises in biochemical assessment of substrate accumulation in these rare diseases. In particular, Jennifer has extensive experience in mass spectrometry which she not only utilises within the diagnostic laboratory but to answer important research questions behind the mechanisms of rare diseases. Jennifer has a particular interest in the brain and the events leading to neurodegeneration, looking for mechanisms which could be targeted by therapy. Jennifer works under the auspices of Professor Maria Fuller, who is a leading expert in lysosomal storage and related disorders, and has enjoyed mentoring a number of placement, masters, honours and PhD students.

Working in rare diseases highlights the need for accurate and timely diagnosis to enable patients their best chance at receiving treatment. To address this, I am passionate about improving the diagnostic algorithm for lysosomal storage and related disorders. To date, I have lead the implementation of six new diagnostic tests which have improved the speed and accuracy of diagnosis. There is a lot more work to do in this space.

My other research passion is lipids in disease, in particular the role of lipids in neurodegeneration. While there is much work showing that lipids are altered, little research shows how this occurs and what impact lipid changes have on neurological decline.

Date Position Institution name
2021 - ongoing Affiliate lecturer University of Adelaide
2021 - ongoing Substrate Scientific Lead SA Pathology (at the Women's and Children's Hospital)
2015 - 2020 Grant funded Scientist SA Pathology (at the Women's and Children's Hospital)
2013 - 2015 Research Officer Women's and Children's Health Research Institute
2012 - 2013 Mass Spectrometry Facility Manager University of Wollongong

Date Institution name Country Title
University of Wollongong Australia PhD
University of Wollongong Australia B. Biotech (Hons)

Year Citation
2025 Lake, A., Saville, J., & Fuller, M. (2025). Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease. Molecular Genetics and Metabolism, 145(3), 109139-1-109139-11.
DOI Scopus2 WoS2
2025 Barker, E. N., Ashiri, M., Saville, J. T., Hemming, R., Furletti, N., Dhume, S. H., . . . Triggs-Raine, B. (2025). Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses. Biology Open, 14(9), 13 pages.
DOI
2024 Camacho-Morales, A., Noriega, L. G., Sánchez-García, A., Torre-Villalvazo, I., Vázquez-Manjarrez, N., Maldonado-Ruiz, R., . . . Rivas-Estilla, A. M. (2024). Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of rats. Heliyon, 10(20), e39206.
DOI Scopus2 Europe PMC2
2023 Nagree, M. S., Rybova, J., Kleynerman, A., Ahrenhoerster, C. J., Saville, J. T., Xu, T., . . . Medin, J. A. (2023). Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.. Commun Biol, 6(1), 20 pages.
DOI Scopus10 WoS9 Europe PMC10
2023 ter Huurne, M., Parker, B. L., Liu, N. Q., Qian, E. L., Vivien, C., Karavendzas, K., . . . Elliott, D. A. (2023). GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals. American Journal of Human Genetics, 110(9), 1600-1605.
DOI Scopus12 WoS9 Europe PMC8
2023 Saville, J. T., Herbst, Z. M., Gelb, M. H., & Fuller, M. (2023). Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.. Molecular genetics and metabolism, 140(3), 1-6.
DOI Scopus6 WoS6 Europe PMC4
2022 Blumenreich, S., Nehushtan, T., Barav, O. B., Saville, J. T., Dingjan, T., Hardy, J., . . . Futerman, A. H. (2022). Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation. npj Parkinson's Disease, 8(1), 11 pages.
DOI Scopus19 WoS20 Europe PMC26
2022 Phillips, G. R., Saville, J. T., Hancock, S. E., Brown, S. H. J., Jenner, A. M., Mclean, C., . . . Mitchell, T. W. (2022). The long and the short of Huntington's disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases. Brain Communications, 4(1), 18 pages.
DOI Scopus26 WoS26 Europe PMC25
2021 Saville, J. T., Derrick Roberts, A. L. K., McIntyre, C., & Fuller, M. (2021). Systemic scAAV9.U1a.hSGSH delivery corrects brain biochemistry in mucopolysaccharidosis type IIIA at early and later stages of disease. Human gene therapy, 32(7-8), 420-430.
DOI Scopus11 WoS11 Europe PMC11
2021 Saville, J. T., & Fuller, M. (2021). Experience with the urinary tetrasaccharide metabolite for pompe disease in the diagnostic laboratory. Metabolites, 11(7), 11 pages.
DOI Scopus11 WoS7 Europe PMC6
2021 Lehmann, R. J., Jolly, L. A., Johnson, B. V., Lord, M. S., Kim, H. N., Saville, J. T., . . . Derrick-Roberts, A. L. K. (2021). Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells. Molecular Genetics and Metabolism Reports, 29(article no. 100811), 100811-1-100811-11.
DOI Scopus6 WoS6 Europe PMC4
2020 Saville, J. T., & Fuller, M. (2020). Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA. Molecular Genetics and Metabolism, 129(2), 111-116.
DOI Scopus13 WoS12 Europe PMC12
2020 Miltenberger-Miltenyi, G., Cruz-Machado, A., Saville, J., Conceição, V., Calado, Â., Lopes, I., . . . Fonseca, J. (2020). Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients. Rheumatology (Oxford, England), 59(8), 2085-2089.
DOI Scopus27 WoS27 Europe PMC21
2020 Chin, S. J., Saville, J. T., McDermott, B. K., Zankl, A., Fletcher, J. M., & Fuller, M. (2020). Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA. Jimd Reports, 55(1), 68-74.
DOI Scopus7 Europe PMC7
2019 Saville, J. T., McDermott, B. K., Chin, S. J., Fletcher, J. M., & Fuller, M. (2019). Expanding the clinical utility of glucosylsphingosine for Gaucher disease. Journal of Inherited Metabolic Disease, 43(3), 558-563.
DOI Scopus40 WoS36 Europe PMC32
2019 Saville, J. T., McDermott, B. K., Fletcher, J. M., & Fuller, M. (2019). Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses. Genetics in Medicine, 21(3), 753-757.
DOI Scopus50 WoS41 Europe PMC40
2019 Saville, J. T., Flanigan, K. M., Truxal, K. V., McBride, K. L., & Fuller, M. (2019). Evaluation of biomarkers for Sanfilippo syndrome. Molecular Genetics and Metabolism, 128(1-2), 68-74.
DOI Scopus19 WoS15 Europe PMC13
2019 McIntyre, C., Saville, J., & Fuller, M. (2019). Collection of cerebrospinal fluid from murine lateral ventricles for biomarker determination in mucopolysaccharidosis type IIIA. Journal of Neuroscience Methods, 324, 5 pages.
DOI Scopus6 WoS6 Europe PMC4
2018 Cardenas-Perez, R. E., Fuentes-Mera, L., De La Garza, A. L., Torre-Villalvazo, I., Reyes-Castro, L. A., Rodriguez-Rocha, H., . . . Camacho, A. (2018). Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspring. Nutrition and Metabolism, 15(1), 16 pages.
DOI Scopus50 WoS47 Europe PMC36
2018 Smith, N. J. C., Fuller, M., Saville, J. T., & Cox, T. M. (2018). Reduced cerebral vascularization in experimental neuronopathic Gaucher disease. Journal of Pathology, 244(1), 120-128.
DOI Scopus21 WoS20 Europe PMC20
2018 Saville, J. T., McDermott, B. K., & Fuller, M. (2018). Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. Molecular Genetics and Metabolism, 123(2), 112-117.
DOI Scopus18 WoS18 Europe PMC17
2018 Hancock, S. E., Ailuri, R., Marshall, D. L., Brown, S. H. J., Saville, J. T., Narreddula, V. R., . . . Blanksby, S. J. (2018). Mass spectrometry-directed structure elucidation and total synthesis of ultra-long chain (O-acyl)-ω-hydroxy fatty acids. Journal of Lipid Research, 59(8), 1510-1518.
DOI Scopus45 WoS46 Europe PMC35
2017 Saville, J. T., Smith, N. J. C., Fletcher, J. M., & Fuller, M. (2017). Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. Analytica Chimica Acta, 955, 79-85.
DOI Scopus20 WoS13 Europe PMC11
2017 Saville, J. T., Thai, H. N., Lehmann, R. J., Derrick-Roberts, A. L. K., & Fuller, M. (2017). Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. Journal of Neurochemistry, 141(2), 287-295.
DOI Scopus19 WoS19 Europe PMC18
2016 Saville, J. T., Lehmann, R. J., Derrick-Roberts, A. L. K., & Fuller, M. (2016). Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse. Experimental Neurology, 277, 68-75.
DOI Scopus8 WoS8 Europe PMC7
2016 Marshall, D. L., Saville, J. T., Maccarone, A. T., Ailuri, R., Kelso, M. J., Mitchell, T. W., & Blanksby, S. J. (2016). Determination of ester position in isomeric (O-acyl)-hydroxy fatty acids by ion trap mass spectrometry. Rapid Communications in Mass Spectrometry, 30(21), 2351-2359.
DOI Scopus35 WoS34 Europe PMC23
2013 Frangioudakis, G., Diakanastasis, B., Liao, B. Q. M., Saville, J. T., Hoffman, N. J., Mitchell, T. W., & Schmitz-Peiffer, C. (2013). Ceramide accumulation in L6 skeletal muscle cells due to increased activity of ceramide synthase isoforms has opposing effects on insulin action to those caused by palmitate treatment. Diabetologia, 56(12), 2697-2701.
DOI Scopus21 WoS21 Europe PMC19
2011 Saville, J. T., Zhao, Z., Willcox, M. D. P., Ariyavidana, M. A., Blanksby, S. J., & Mitchell, T. W. (2011). Identification of phospholipids in human meibum by nano-electrospray ionisation tandem mass spectrometry. Experimental Eye Research, 92(3), 238-240.
DOI Scopus61 WoS57 Europe PMC44
2010 Saville, J. T., Zhao, Z., Willcox, M. D. P., Blanksby, S. J., & Mitchell, T. W. (2010). Detection and quantification of tear phospholipids and cholesterol in contact lens deposits: The effect of contact lens material and lens care solution. Investigative Ophthalmology and Visual Science, 51(6), 2843-2851.
DOI Scopus69 WoS69 Europe PMC53

Date Role Research Topic Program Degree Type Student Load Student Name
2023 Co-Supervisor Exploring the cell pathology of Gaucher disease Doctor of Philosophy Doctorate Full Time Miss Ashleigh Lake
2023 Co-Supervisor Exploring the cell pathology of Gaucher disease Doctor of Philosophy Doctorate Full Time Miss Ashleigh Lake

Date Role Membership Country
2022 - ongoing Representative Australian and New Zealand Societry for Mass Spectrometry Australia
2007 - ongoing Member Australian and New Zealand Society for Mass Spectrometry Australia

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