Miss Ashleigh Lake

School of Biological Sciences

College of Science


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.

Date Position Institution name
2023 - ongoing Casual Academic Tutor University of Adelaide

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)

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 Lake, A., & Fuller, M. (2025). Sphingolipids in Gaucher disease: a systematic review. Orphanet Journal of Rare Diseases, 20(1), 15 pages.
DOI

I am currently employed as a casual academic tutor for GENETICS 2520: Function and Diversity of Genomes and GENETICS 2510: Foundation of Genetics.


Connect With Me

External Profiles

Other Links