PhD Scholarship: Are there any long-term effects of being a Sanfilippo carrier?
The Sanfilippo Children’s Foundation is proud to be providing a supplementary scholarship to Nazzmer Nazri, who is undertaking a PhD project on Sanfilippo at The University of Adelaide, under the guidance of A/Prof Kim Hemsley (Flinders University) and Dr Nicholas Smith (Women’s and Children’s Hospital, Adelaide).
It is currently thought that carriers of Sanfilippo Syndrome – those that possess only one faulty gene – are not affected. However, for some other similar diseases, there are studies linking carrier status with a higher than average risk of developing late-onset neurodegenerative disease. One example is Gaucher’s disease, in which carriers of the condition have an increased risk of developing Parkinson’s Disease later on in life.
Nazzmer’s PhD project, which is now into its second year, aims to investigate the impact of being a Sanfilippo carrier on the brain. Nazzmer will use mice that are carriers for Sanfilippo Type A and study their brain structure and function over time. Although the results are not directly transferrable to human Sanfilippo carriers, they could pave the way for further investigations exploring any potential risks and possible prevention methods.
- Project title: Defining the Neuropathological Impact of Haploinsufficiency in the Lysosomal Degradative Gene, SGSH
- Chief investigator: Nazzmer Nazri’s PhD project will be carried out under the guidance of A/Prof Kim Hemsley at Flinders University and Dr Nicholas Smith at the Women’s and Children’s Hospital, Adelaide.
- Amount: $10,000 over 2 years
- Status: Active