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.
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Appointments
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 -
Education
Date Institution name Country Title University of Wollongong Australia PhD University of Wollongong Australia B. Biotech (Hons) -
Research Interests
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Journals
Year Citation 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.
Scopus1 Europe PMC12023 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.
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.
Scopus12022 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.
Scopus5 WoS5 Europe PMC32022 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.
Scopus11 WoS82021 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.
Scopus8 WoS6 Europe PMC82021 Saville, J. T., & Fuller, M. (2021). Experience with the urinary tetrasaccharide metabolite for pompe disease in the diagnostic laboratory. Metabolites, 11(7), 11 pages.
Scopus6 WoS3 Europe PMC32021 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.
Scopus3 WoS3 Europe PMC32020 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.
Scopus10 WoS9 Europe PMC82020 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.
Scopus20 WoS17 Europe PMC112020 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.
Scopus5 Europe PMC52019 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.
Scopus27 WoS22 Europe PMC162019 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.
Scopus36 WoS24 Europe PMC252019 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.
Scopus13 WoS10 Europe PMC72019 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.
Scopus6 WoS6 Europe PMC32018 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.
Scopus38 WoS34 Europe PMC172018 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.
Scopus18 WoS17 Europe PMC132018 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.
Scopus16 WoS15 Europe PMC122018 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.
Scopus41 WoS37 Europe PMC222017 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.
Scopus16 WoS9 Europe PMC72017 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.
Scopus16 WoS16 Europe PMC112016 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.
Scopus8 WoS8 Europe PMC32016 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.
Scopus32 WoS32 Europe PMC142013 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.
Scopus20 WoS20 Europe PMC132011 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.
Scopus59 WoS55 Europe PMC362010 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.
Scopus65 WoS65 Europe PMC35
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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
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Memberships
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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