Dr Jennifer Saville
Adelaide Medical School
Faculty of Health and Medical Sciences
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 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).
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.
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 Scopus5 WoS5 Europe PMC6
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 Scopus1 WoS1
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, 100811-1-100811-11.
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 Scopus6 WoS6 Europe PMC4
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 Scopus15 WoS15 Europe PMC10
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 Scopus2 Europe PMC2
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 Scopus16 WoS16 Europe PMC8
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 Scopus24 WoS22 Europe PMC19
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 Scopus10 WoS9 Europe PMC6
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 Scopus4 WoS4 Europe PMC1
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 Scopus33 WoS33 Europe PMC12
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 Scopus17 WoS17 Europe PMC13
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 Scopus14 WoS14 Europe PMC10
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 Scopus36 WoS35 Europe PMC20
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 Scopus11 WoS8 Europe PMC6
2017 Saville, J., Thai, H., Lehmann, R., Derrick-Roberts, A., & 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 Scopus15 WoS16 Europe PMC10
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 Scopus7 WoS7 Europe PMC2
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 Scopus30 WoS31 Europe PMC12
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 Scopus20 WoS20 Europe PMC13
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 Scopus55 WoS54 Europe PMC35
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 Scopus63 WoS64 Europe PMC34
Current Higher Degree by Research Supervision (University of Adelaide)
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
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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