2023 Scientific Programme
The Lysosomal Disease Summit brings together clinicians, researchers, industry partners, and advocacy groups from around the world to advance diagnostics, treatment development, and patient-centred care across the lysosomal disease landscape. The programme features expert presentations, panel discussions, and collaborative sessions designed to accelerate scientific progress and strengthen global connections.
Saturday, 28 October 2023
Opening Session
| 08:00 | Sheridan Campbell Fabry Australia | Introduction and Welcome |
| 08:05 | Uma Ramaswami Royal Free London NHS Foundation Trust | Clinical Overview of Lysosomal Diseases |
Overview of Current and Emerging Therapies for Lysosomal Disease in Australia
Moderated by Uma Ramaswami
| 08:35 | Heidi Peters Royal Children’s Hospital | Current Approved Therapies in Australia (ERT, SRT, HSCT, gene therapies, chaperone therapy, etc.) |
| 08:50 | Marc Patterson Mayo Clinic | Novel and Evolving Therapies |
| 09:05 | Q&A / Panel |
Long Term Data in Established Therapies and Treating Adult Disease
Moderated by Marc Patterson
| 09:15 | Kathy Nicholls University of Melbourne | Long Term Outcomes of ERTs in Fabry Disease |
| 09:35 | Heidi Peters Royal Children’s Hospital | Longitudinal Follow-up Uncovers an Early Emerging Phenotype in Children with Late-Onset Pompe Disease Diagnosed via Newborn Screening |
| 09:50 | Michel Tchan University of Sydney | Registry Outcomes |
| 10:05 | Q&A / Panel | |
| 10:15 | Break / Exhibits |
Biomarkers and Diagnostics
Moderated by Michel Tchan
| 10:45 | Maria Fuller University of Adelaide | Biomarkers for Screening, Diagnosis and Treatment Monitoring: Are They Useful? |
| 11:00 | Maria Fuller University of Adelaide | A Glimpse into the Feasibility of Next Generation Sequencing for Newborn Screening of Lysosomal and Other Diseases with Second-Tier Biochemical Assays |
| 11:15 | Ashleigh Lake University of Adelaide | Measuring Sphingolipid Flux in a Macrophage Model of Gaucher Disease |
| 11:30 | Maria Fuller University of Adelaide | Biomarkers in MPS |
| 11:45 | Q&A / Panel | |
| 12:00 | Lunch / Exhibits |
Newborn Screening for Lysosomal Disease: Imperative or Inessential?
Moderated by Marc Patterson
| 13:00 | Karin Kassahn University of Adelaide | Molecular NBS vs. the MS/MS Based Platform |
| 13:10 | Bruce Bennetts University of Sydney | Whole Genome Sequencing (WGS) Initiatives |
| 13:20 | Glenn Bennett University of New South Wales | Future Proofing Newborn Screening with Targeted Gene Sequencing |
| 13:30 | Kaustuv Bhattacharya University of Sydney Glenn Bennett University of New South Wales | The Debate |
| 13:45 | Q&A / Panel |
Neurology and Lysosomal Diseases
Moderated by Uma Ramaswami
| 14:00 | Lisa Melton Sanfilippo Children’s Foundation | Development of Consensus Guidelines for the Clinical Care of Individuals with Sanfilippo Syndrome and a Roadmap to Address Unmet Needs |
| 14:15 | Mark Walterfang University of Melbourne | Imaging for Neurodegenerative Lysosomal Disorders and Updates on Imaging in NPC |
| 14:30 | Marc Patterson Mayo Clinic | Lysosomal Disease with No Disease-Modifying Therapies: Practical Management and New Therapies in the Pipeline |
| 14:45 | Q&A / Panel | |
| 15:00 | Break / Exhibits |
Rare Metabolic Disease Workforce White Paper | National Strategy for Australia’s Rare Metabolic Disease Workforce
Moderated by Michel Tchan
| 15:30 | Rare Voices Australia | Introduction and Welcome |
| 15:35 | Falak Helwani | Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia |
| 16:05 | Nicole Millis | National Strategy for Australia’s Rare Metabolic Disease Workforce |
| 16:45 | Q&A / Panel |
Reception
Sunday, 29 October 2023
What’s Already on Our Doorstep, and What’s Next?
Moderated by Michel Tchan
| 09:00 | Samantha Ginn University of Sydney | Overview of AAV and Lentiviral Therapies |
| 09:05 | Samantha Ginn University of Sydney | Gene Editing Approaches |
| 09:20 | Ya Hui Hung The Florey Institute of Neuroscience and Mental Health | Beyond COVID-19: Harnessing the Power of mRNA Technology to Transform Gene Therapy for NP-C and Other Rare Genetic Conditions |
| 09:35 | Emma Parkinson-Lawrence University of South Australia | Lysosomal Storage Disease: A Focus on Lung Pathogenesis |
| 09:50 | Q&A / Panel | |
| 10:00 | Break / Exhibits |
What Does the Next Generation Look Like for Patients?
Moderated by Marc Patterson
| 10:30 | Michel Tchan University of Sydney | Transition Issues |
| 10:45 | Kathy Nicholls University of Melbourne | Special Challenges in Clinical Trials |
| 11:00 | Yvonne Zurynski Macquarie University | Remote Access Challenges |
| 11:15 | Charles Denaro University of Queensland | Regulatory, Costing, and Eligibility |
| 11:30 | Anna Pak Poy Rare Find Foundation | Patient and Family Perspectives |
| 11:45 | Q&A / Panel |
Adjourn