Final Agenda

Please note: titles, speakers and times are subject to change.

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

We respectfully acknowledge the Traditional Owners of the land in which we gather, the Boon Wurrung and Woiwurrung (Wurundjeri) people of the Kulin Nation, and pay our respect to their Elders, past and present.