2023 Solving Sanfilippo Symposium - the power of a gathering

08 Jun 2023

You cannot underestimate the power of bringing people together!

The 2023 Solving Sanfilippo Symposium, the third annual Australian gathering of researchers, clinicians and parents dedicated to sharing progress and ideas on Sanfilippo research, was inspiring, informative and full of innovative ideas.

Over 70 individuals joined the Symposium, either in the room at the South Australian Health and Medical Research Institute, in Adelaide, or online via Zoom on the 19th and 20th of May.

This is a wonderful increase on the 50-strong meeting held in 2022, demonstrating that the efforts of the Sanfilippo Children’s Foundation to build awareness and capacity in the Australian research community are paying dividends.

The meeting provided an opportunity for Australian and international researchers, many funded by Sanfilippo Children’s Foundation and our co-funding partners, to showcase their latest findings and discuss the emerging insights into the disease and how to treat it.

The many parents and carers in attendance, helped ground these scientific discussions in the realities of living with a diagnosis of Sanfilippo in the family, bringing a palpable sense of urgency to the discussions. We are particularly grateful to Kellie, Jillian and Neeraja for their strength and resilience in sharing their families' stories, their hopes and their responses to these discussions.

Among the scientific presentations we were honoured to have a wonderful keynote presentation from Professor Nicola Allen, from the prestigious Salk Institute in the USA, during a session on the role that inflammation plays in Sanfilippo.

Professor Allen talked about the key role that astrocytes, a type of support cell in the brain, play in neurodevelopmental and neurodegenerative diseases. As astrocytes are chronically activated, or ‘inflamed’, in Sanfilippo syndrome, her talk was very informative for the Sanfilippo researchers. Likewise, Professor Allen took away some key insights from the other speakers in this session to consider in her own research.

There was great interest in the presentation from Dr Lynda Polgreen from the Lundquist Institute, USA, into the results from the recently completed clinical trial of Anakinra, an anti-inflammatory drug, in children with Sanfilippo. With encouraging signs of improvements in some symptoms, Dr Polgreen and the team are now planning a larger follow-up trial.

Other research topics covered, included the urgency and importance of early diagnosis and the role that new genomic methods might play in newborn bloodspot screening for Sanfilippo, new insights into the underlying disease processes that damage cells and their parallels with adult dementias, and innovative drug discovery projects.

We were honored to have Senator Marielle Smith, Federal Senator for South Australia, speak to us with great compassion and commitment about her support and advocacy within government for rare diseases and the urgent need for early diagnosis and care pathways. 

We also heard from Mia Holloway of Dementia Support Australia about the common causes and approaches to manage behavioural symptoms in adult and childhood dementias. Dr Jasneek Chawla of the University of Queensland provided an update on her research into the causes of sleep disturbance in children with neurodevelopmental and neurodegenerative conditions and the development of targeted interventions to improve sleep and quality of life for children and their families.

We are heartened by the overwhelmingly positive feedback received from attendees. For families, the opportunity to connect with each other and with researchers was warmly welcomed. Likewise, researchers enormously valued the opportunity to connect directly with families.

Another marker of success is the many researchers who confirmed that they had made new connections and discussed possible new collaborations. We very much look forward to seeing the fruits of these discussions in the coming months and years!

Thank you to Associate Professor Cedric Bardy and his team for all the help they provided in hosting us at SAHMRI, and for giving the families such a fantastic behind-the-scenes tour of the laboratory.

A special thank you to Ultragenyx and the CommBank Staff Foundation whose support made it possible to bring everyone together at this year’s symposium.