Friday, 27 October, 2023
Welcome Reception
- 18:00Welcome Reception open to all attendees
Saturday, 28 October, 2023
Introductions and Overview
- 8:00Introduction and WelcomeSheridan Campbell
- 8:05Clinical overview of lysosomal diseasesUma Ramaswami, MD
Overview of current and emerging therapies for lysosomal disease in Australia
- 8:30Current approved therapies in Australia (ERT, SRT, HSCT, gene therapies, chaperone therapy, etc.)Heidi Peters, MBBS, PhD
- 8:50Novel and evolving therapiesMarc Patterson, MD
- 9:05Panel Discussion and Q&AALL
Long term data in established therapies and treating adult disease
- 9:15Long term outcomes of ERTs in Fabry DiseaseKathy Nicholls, MBBS, MD
- 9:35Early emerging phenotype in children w/ late-onset Pompe diagnosed via NBSHeidi Peters, MBBS, PhD
- 9:50Registry outcomesMichel Tchan, MBBS, PhD, BMedSc
- 10:05Panel Discussion and Q&AAll
- 10:15Break / Exhibits Open
Biomarkers and diagnostics
- 10:45Biomarkers for screening, diagnosis and treatment monitoring: are they useful?Maria Fuller, PhD
- 11:00Feasibility of next gen sequencing for newborn screening of lysosomal and other diseasesMichael Gelb, PhD (Author)
Presented by Maria Fuller, PhD
- 11:15Measuring sphingolipid flux in a macrophage model of Gaucher diseaseAshleigh Lake, BSc
- 11:30Biomarkers in MPSMaria Fuller, PhD
- 11:45Panel Discussion and Q&AAll
- 12:00Lunch with Exhibitors
Newborn Screening for Lysosomal Diseases: Discussion and Debate
- 13:00Molecular NBS vs. the MS/MS based platformKarin Kassahn, PhD
- 13:10Whole genome sequencing (WGS) initiativesBruce Bennetts, PhD
- 13:20Future proofing newborn screening with targeted gene sequencingGlenn Bennett, MB, BSc
- 13:30“Newborn Screening for Lysosomal Disease: Imperative or Inessential?” The DebateKaustuv Bhattacharya, MBBS, MD and Glenn Bennett, MB, BSc (Moderated by Marc Patterson, MD)
- 13:45Panel Discussion and Q&AAll
Neurology and lysosomal diseases
- 14:00Consensus guidelines for clinical care of Sanfilippo patients and Roadmap to address unmet needsLisa Melton, PhD
- 14:15Imaging for neurodegenerative lysosomal disorders, and updates on imaging in NPCMark Walterfang, MBBS, PhD
- 14:30Lysosomal disease with no disease modifying therapiesMarc Patterson, MD
- 14:45Panel Discussion and Q&AAll
- 15:00Break / Exhibits Open
Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia
National Strategic Action Plan for Rare Diseases
- 15:30Introduction and welcomeRare Voices Australia
- 15:35Australia’s Rare Metabolic Disease Workforce – Advocating for Change Falak Helwani, PhD
- 16:10National Strategic Action Plan for Rare Diseases Nicole Millis
- 16:45Panel Discussion and Q&AAll
- 17:00Session End
Collaboration Event
- 18:00Collaboration Reception / Exhibit Open
- 19:00Collaboration Dinner
Sunday, 29 October, 2023
“What’s already on our doorstep, and what’s next?”
- 9:00Overview of AAV and lentiviral therapiesSamantha Ginn, PhD
- 9:10Gene editing approachesSamantha Ginn, PhD
- 9:20Beyond COVID-19: Harnessing mRNA technology to transform gene therapy for NP-C & other rare diseasesYa Hui Hung, PhD
- 9:35Lysosomal storage disease: A focus on lung pathogenesisEmma Parkinson-Lawrence, PhD
- 9:50Panel Discussion and Q&AAll
- 10:00Break / Exhibits Open
“What does the next generation look like for patients?”
- 10:30 Transition IssuesMichel Tchan, MBBS, PhD, BMedSc
- 10:45Special challenges in clinical trialsKathy Nicholls, MBBS, MD
- 11:00Remote access challengesYvonne Zurynski PhD, MHPOL
- 11:15Regulatory, costing, and eligibilityCharles Denaro, MBBS, MD
- 11:30Patient and family perspectivesAnna Pak Poy
- 11:45Closing statements / DiscussionCo-Chairs
- 12:00Session End