2023 Agenda

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