Ashleigh Lake

I am an early‑career researcher specialising in childhood neurodegeneration, sphingolipid metabolism, and lysosomal storage diseases. My PhD research largely focused on sphingolipid dysregulation in Gaucher disease, an inborn error of lysosomal sphingolipid metabolism. I designed and implemented LC-ESI-MS/MS stable isotope and isomer labelling approaches to charcterise sphingolipid anabolism and catabolism in different in vitro cell models of Gaucher disease. This work revealed shared upregulations of de novo sphingolipid synthesis across neuronal and macrophage models, contributing to intracellular lipid pathologies.

I am now expanding my research in other lysosomal storage diseases that cause childhood dementia, including Sanfilippo syndrome (mucopolysaccharidosis IIIA) and GM1 gangliosidosis within the Childhood Dementia Research Group (CDRG) at Flinders University. At the CDRG, we use a combination of pre-clinical animal and cell models and biochemical analysis to characterise disease phenotypes and assess potential therapeutics for these devastating group of disorders.

My research interests include early-onset (childhood) neurodegeneration, sphingolipid metabolism, neuroinflammation, and therapeutic intervention.

The 2025 University of Adelaide School of Biological Sciences Postgraduate Academic Achievement Award & The 2025 University of Adelaide School of Biological Sciences Postgraduate Research Service Award

University Finalist at the 2024 University of Adelaide 3-Minute Thesis Competition

Winner of the 2024 University of Adelaide Faculty of Sciences Engineering & Technology 3-Minute Thesis Competition

• Neurodegernation/neurodegenerative disease
• Childhood dementia
• Lysosomal storage disorders
• Neuroinflammation
• Lipidomics 
• Metabolomics
• Sphingolipids