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.