Ashleigh Lake
Higher Degree by Research Candidate
School of Biological Sciences
Faculty of Sciences, Engineering and Technology
Final-year PhD candidate at the University of Adelaide for a thesis entitled, 'Exploring the cell pathology of Gaucher disease'. My research focuses on sphingolipid metabolism in macrophage and neuronal models of Gaucher disease, using liquid chromatography-mass spectrometry and stable isotope tracing techniques. I have general research interests in central nervous system disease, cellular biochemistry, and human/medical genetics and am currently a casual academic tutor for GIIA and GIIB students.
My PhD works focuses on delineating the cell pathology of Gaucher disease (GD), a rare inborn error of sphingolipid catabolism, characterised by both visceral disease (organ enlargement, bone disease) and severe neurologic decline (childhood dementia). My research involve the use of liquid chromatography-tandem mass spectrometry and stable isotope labelling techniques to explore the sphingolipid profiles of different GD cell types. This approach clarifies sphingolipid dyshomeostasis at a cellular level for a better understanding of how different cells respond to stress and contribute to overall disease.
My broader research interests include neurodegenerative disease, lipid metabolism, and neuroinflammation.
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Appointments
Date Position Institution name 2023 - ongoing Casual Academic Tutor University of Adelaide -
Education
Date Institution name Country Title 2022 University of Adelaide Australia PhD in Sciences 2021 - 2021 University of Adelaide Australia Honours Degree of a Bachelor of Science 2018 - 2020 University of Adelaide Australia Bachelor of Science (Biomedical Science) -
Research Interests
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Journals
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.
Scopus1 WoS12025 Lake, A., & Fuller, M. (2025). Sphingolipids in Gaucher disease: a systematic review. Orphanet Journal of Rare Diseases, 20(1), 15 pages.
I am currently employed as a casual academic tutor for GENETICS 2520: Function and Diversity of Genomes and GENETICS 2510: Foundation of Genetics.
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