PhD Research in focus at international rare disease symposium

By Jen Wong (University of Melbourne PhD candidate)

Mucopolysaccharidoses (MPS) are a group of rare inherited lysosomal storage disorders. There are several types of MPSs, each presenting with different physical and neurological symptoms. For individuals with Sanfilippo syndrome (MPS III), these symptoms can be severe and progressive. Speech and language impairments are among the earliest signs of their neurodegeneration and part of my work aims to characterise the speech and language characteristics of this population.

I had the wonderful opportunity to present my poster at the 18th International Symposium on Mucopolysaccharidoses and Related Lysosomal Diseases in June this year, held in the beautiful city of Florence, Italy. It was a highly collaborative biennial event that brought together patients, families, clinicians and researchers from all over the world to share the latest advances in MPS research.

Image description: 18th International MPS Symposium.

I had the privilege of hearing from internationally recognised researchers presenting on groundbreaking studies on newborn screening, therapeutic approaches, and the growing role of AI and digital health in rare disease research. I also established valuable connections with the researchers and met with various family support groups like the Sanfilippo Fighters, whom I have been in contact with – it was so lovely to see them in-person!

Another highlight of the conference was hearing from Nobel Prize Laureate Prof Svante Pääbo. He is a Swedish geneticist who is known for his pioneering work in ancient DNA research and evolutionary genetics. The seminar was inspiring and his passion for his work reinforced the importance of pursuing research with persistence, creativity, and a willingness to explore challenging questions.

This conference was an incredibly valuable experience and has made a significant contribution to my PhD journey. I would like to express my gratitude to the MCRI’s Student Program, as well as my supervisors Prof. Angela Morgan and Dr. Amanda Brignell for their continued support.

Image description: Post of speech and language characteristics of Sanfilippo syndrome.