PhD Scholarship - University of Adelaide
The Sanfilippo Children’s Foundation is proud to be providing a supplementary scholarship to Laura Hewson, who is undertaking a University of Adelaide PhD project on Sanfilippo at the University of Adelaide, under the guidance of Dr. Louise O'Keefe.
The project will utilise on a newly developed fruit fly model of Sanfilippo Types A and C. These flies develop symptoms of Sanfilippo such as changes to sleep and motor function. They are a useful model because disease processes can be quickly and inexpensively studied. Laura will study how cellular processes such as inflammation in the brain contributes to the symptoms of Sanfilippo. An improved understanding of the processes that cause the symptoms of Sanfilippo will help to highlight new ways to potentially treat the condition.
Laura’s PhD project involved the use of fruit fly models of Sanfilippo to understand the mechanisms that lead to neurodegeneration in the disease.
She successfully characterised two different Sanfilippo type C fruit fly models - one model had a change in the Hgsnat gene, while the other had the Hgsnat gene deleted in neurons. Both models demonstrated typical symptoms of the disease, such as an accumulation of heparan sulfate, cellular dysfunction, altered behavioural activity and changes to their circadian rhythm. When type C flies were compared to a previously-developed type A fly model, Laura found that the activities of similar genes were altered in both subtypes, and no significant differences between these models were observed. However, closer examination of the symptoms observed when the Hgsnat gene was switched off in either neurons or glia (support cells) suggested that these cells contribute differently to neurodegeneration and symptoms in the type C fly model.
More research is needed to investigate these findings in detail, but Laura’s work has laid the foundation for important follow-up studies.
Laura shared her PhD findings with other researchers at various national and international conferences and symposiums, including the Sanfilippo Children’s Foundation’s inaugural Solving Sanfilippo Syndrome in 2020.
- Project title: Investigating the molecular mechanisms that mediate neuropathology in Sanfilippo Syndrome
- Chief investigator: Laura Hewson’s PhD project will be carried out under the guidance of Dr Louise O’Keefe at the University of Adelaide
- Amount: $10,000 over 2 years
- Status: Completed