The 2024 annual symposium

In May 2024, in collaboration with the Laboratory for Human Neurobiology, South Australian Health and Medical Research Institute (SAHMRI), Adelaide, the Sanfilippo Children’s Foundation is proud to have hosted our annual Solving Sanfilippo Symposium. Over 85 researchers, clinicians and parents joined us in person or online for a day and a half of fascinating presentations and productive discussions. 

The videos below are recordings of some of the presentations from the 2024 Symposium. Not all the presentations are included, as some researchers presented unpublished data and prefer not to have this shared in the recording. Below you can see a list of the presentations and discussions that are included in the recordings. To jump to different presentations you can use the time stamps shown below.

DAY 1, Friday 31 May - morning

0.00 Welcome - Kerren Hosking, Sanfilippo Children’s Foundation

15.24 Sarah Beattie-Stevens - Living with Sanfilippo

29.43 Dr Carol Siu, Genetics & Molecular Pathology, SA Pathology - NewbornInSA: genomic newborn screening and criteria and considerations for the inclusion of conditions

49.39 Professor Michael Gelb, University of Washington - Newborn screening for a panel of lysosomal storage diseases including all forms of Sanfilippo Syndrome

01.08.23 Q&A and panel discussion with Professor Edwin Kirk, Dr Carol Siu, Professor Michael Gelb, Dr Shanti Balasubramaniam, Professor Kaustuv Bhattacharya, and Dr Enzo Ranieri

01.49.54 Dr Lisa Melton, Sanfilippo Children’s Foundation - Sanfilippo patients’ data: An International Sanfilippo Syndrome Alliance proposal for a research platform

02.06.45 Discussion - Accelerating therapies into clinical trials for Sanfilippo, cross-pollination and collaboration with other disease fields

DAY 1, Friday 31 May - afternoon

01.13 Kimberlee Murdoch, Advocate/Support Coordinator, Everything is Pawsable - Humanising NDIS: words are vital - Bridging the void between professionals and families.

18.02 Ms Lottie Morison, Murdoch Children’s Research Institute and The University of Melbourne - Planning for the future for children with genetic conditions that cause a loss of communication skills

37.19 Professor Simon Jones, Manchester Centre for Genomic Medicine at Saint Mary’s Hospital and Royal Manchester Children’s Hospital - Ex vivo stem cell gene therapy for MPS IIIA: results of a phase 1/2 clinical trial

01.26.49 Reflections from family

DAY 2, Saturday 1 June

0.00 Professor Mark Walterfang, The University of Melbourne - Findings from a clinical trial of Acetyl Leucine for Niemann Pick C: what are the takeaways for Sanfilippo syndrome?

33.30 Dr Johannes Schlachetzki, University of California, San Diego - Targeting the inflammatory component of Sanfilippo syndrome

01.03.53 Mr Kaijing Xu, The University of Adelaide - A Drosophila MPS III mutation model for screening of potential therapeutics affecting lysosomal acidification

01.14.05 Mr Ewan Gerken, The University of Adelaide - Generation and characterisation of novel MPS IIIA, B & C zebrafish models

01.36.53 Professor Kim Hemsley, Flinders University - Do we need more models of Sanfilippo to better understand disease pathogenesis and evaluate potential therapies?

02.03.37 Discussion - Measuring outcomes in models that can predict clinical outcomes that are important to families.

02.21.46 Symposium wrap-up: parent & clinician reflections

The 2023 annual symposium

The video below is a recording of some of the presentations from the 2023 Symposium. Unfortunately, as many researchers presented unpublished data we are unable to share their presentations with you. You can also read our summary article for an overview of the topics discussed. To jump to different presentations you can use the time stamps in the contents list below, or simply click on the 'chapter' sections within the YouTube video to skip ahead to the sections you're interested in.

0:00 Welcome and Acknowledgement of Country (Kerren Hosking)
5:39 Mikayla's story (Kellie Campbell)
14:51 A Global Roadmap for Sanfilippo Syndrome Therapies (Dr Lisa Melton)
28:09 Clinical development of therapies for Sanfilippo: the case for early diagnosis & treatment (Dr Nicholas Smith)
53:50 NewbornsInSA: metabolic and genomic NBS pilot (A/Prof Karin Kassahn)
01:11:48 Identifying common disease mechanisms between Sanfilippo syndrome & Alzheimer's Disease using RNAseq (Dr Karissa Barthelson)
01:28:04 Practical insights into childhood dementia and how Dementia Support Australia can help (Mia Holloway)
01:38:57 Sleep disturbance in neurodevelopmental and neurodegenerative disorders: from understanding to intervention (Dr Jasneek Chawla)
01:56:40 Targeting microglia in Sanfilippo syndrome with photobiomodulation (Dr Paul Austin & Dr Adeline Lau)