Congratulations, Andrew Shoubridge!

10 Dec 2020

Andrew Shoubridge, the first recipient of the Sanfilippo Children’s Foundation top-up scholarship, has submitted his PhD thesis on brain cell structure in Sanfilippo Syndrome and how damage can be prevented.

Andrew undertook his PhD studies at The University of Adelaide and the South Australian Health and Medical Research Institute (SAHMRI). He was supervised by Assoc. Prof. Kim Hemsley in the Childhood Dementia Research Group, now located at Flinders University, and co-supervised by Dr. Emma Parkinson-Lawrence at the University of South Australia.

In his project, Andrew used a mouse model of Sanfilippo type A with fluorescently-tagged brain cells, allowing their structure to be easily investigated under the microscope. He was interested in the communication points that transmit messages throughout the nervous system, specifically the dendritic spines. He found that these were reduced in number compared to mice without Sanfilippo. In the mice with Sanfilippo, the reduced communication led to reduced function of the brain cells, which is thought to contribute to cognitive decline.

Alongside this work, Andrew sought to determine mechanisms leading to brain cell damage. His results indicate that inflammation in the brain is involved in the process, adding to the growing body of research linking the brain’s immune system with Sanfilippo disease progression. This data further indicates that anti-inflammatory therapeutics may help to reduce brain cell damage and thus reduce symptoms or slow progression.

Finally, Andrew used AAV9-based gene therapy to treat a group of mice with Sanfilippo type A at birth, and compared them to untreated mice. It was found that the number of brain cell communication points were significantly increased in the treated mice and less neuroinflammation was observed. This suggests that the gene therapy delivered at birth may help to reduce or delay Sanfilippo symptoms in the type A mice studied.

Andrew has presented his findings at various conferences, including the inaugural Solving Sanfilippo Symposium hosted by the Sanfilippo Children’s Foundation in March 2020. Andrew says: “Thank you all so very much for the opportunity to work closely with you over the past few years, and for giving me the opportunity to present and network at the Solving Sanfilippo Symposium earlier this year. I have also been incredibly grateful to interact with the children, who reinforce our emotional investment and strengthen our research.”