2024 Lysosomal Disease Summit Course Directors
Dr. Michel Tchan, (MBBS, PhD, BMedSc, FRACP)
Adult Genetic Metabolic Disorders | Clinical Genetics
Associate Professor, University of Sydney
Head, Department of Genetic Medicine
Westmead Hospital
Sydney, NSW, Australia
Associate Professor Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders and inborn errors of metabolism. He is currently the Head of Department, Genetic Medicine at Westmead Hospital in Sydney, and Clinical Associate Professor at the University of Sydney.
Professor Maria Fuller, (BAppSc, MAppSc, PhD, FFSc(RCPA))
National Referral Laboratory
Genetics and Molecular Pathology SA Pathology
Adelaide Medical School and School of Biological Sciences
Robinson Research Institute, University of Adelaide, South Australia
Adelaide, South Australia
Maria Fuller is a Clinical Scientist specialising in biochemical genetics and leads the National Referral Laboratory within the state-wide public pathology service in South Australia. She has a conjoint academic appointment with the University of Adelaide and enjoys supervising post-graduate students as well as hosting those undertaking clinical placement. She has had a long-standing interest in lysosomal storage disorders and has contributed to over 120 publications in the scientific and medical literature.
Dr. Uma Ramaswami, (FRCPCH, MD)
Consultant in Inherited Metabolic Disorders and Honorary Associate Professor
Genetics and Genomic Medicine
University College London
Clinical Lead, Lysosomal Storage Disorders Unit
Institute of Infection, Immunity and Rare Diseases
Royal Free London NHS Foundation Trust,
London, England, United Kingdom
Uma is the Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London and has twenty years’ experience in managing children and young adults with inherited metabolic disorders. Uma has a special interest in clinical research relating to understanding of the natural history and disease progression of inherited metabolic disorders.
2024 Preliminary Program
Friday, 18 October, 2024
| 18:00 | Welcome Reception Exhibits Open | Open to all attendees |
Saturday, 19 October, 2024
| 8:25 | Uma Ramaswami Royal Free Hospital London, United Kingdom | Welcome and Introduction |
| 8:30 | Maria Fuller SA Pathology Adelaide, SA, Australia | Standing on the shoulders of giants: Where lysosomal disorders stand today |
| 8:45 | Janet C. Long Macquarie University Sydney, NSW, Australia | Key learnings from health services research in genomics and rare disease diagnosis and management |
| 9:00 | Michael Tchan Westmead Hospital Sydney, NSW, Australia | The challenging and changing face of inherited metabolic disorders in the genomic era |
| 9:15 | Moderated | Q&A and Panel Discussion |
| 9:30 | Jasmina Markulic University of Adelaide Adelaide, SA, Australia | Investigating molecular markers of inflammation and autophagy in a mouse model of MPS IIIA |
| 9:45 | Ashleigh Lake SA Pathology Adelaide, SA, Australia | Sphingolipid metabolism in a macrophage and neuronal model of Gaucher disease |
| 10:00 | Farah Lamiable-Oulaidi Victoria University of Wellington Wellington, New Zealand | Toward a combination therapy to treat Krabbe disease: Rational design and synthesis of small molecule agents |
| 10:15 | Moderated | Q&A and Panel Discussion |
| 10:30 | Exhibits Open | Refreshment Break |
| 11:00 | Ying Sun Cincinnati Children’s Hospital Cincinnati, OH, United States | Brain-targeting therapies for the treatment of neuronopathic Gaucher disease |
| 11:15 | Adam P. Vogel University of Melbourne Melbourne, VIC, Australia | Speech and language function in Pompe disease |
| 11:30 | Jo Watson Deputy Chair, Pharmaceutical Benefits Advisory Committee (PBAC) Canberra, ACT, Australia | Changes to treatment access |
| 11:45 | Moderated | Q&A and Panel Discussion |
| 12:00 | Lunch with Exhibitors | |
| 13:00 | Wei-Hsuan Chiu University of Melbourne Melbourne, VIC, Australia | Neuropsychological profile and longitudinal changes in Niemann-Pick disease type C: A retrospective study |
| 13:15 | Tom Reilly Royal Melbourne Hospital Melbourne, VIC, Australia | Left fronto-temporal and subcortical dysconnectivity in adult Niemann-Pick type C |
| 13:30 | Mark Walterfang Royal Melbourne Hospital Melbourne, VIC, Australia | A comparison of plasma neurofilament light chain protein and gual fibrillary acidic protein (GFAP) levels in NPC type C to age and sex-matched controls |
| 13:45 | Moderated | Q&A and Panel Discussion |
| 14:00 | Lottie D. Morison Murdoch Children’s Research Institute Melbourne, VIC, Australia | Speech, language and non-verbal communication in CLN2 and CLN3 Batten disease |
| 14:15 | Ineka T. Whiteman Batten Disease Support, Research, and Advocacy Foundation Sunshine Coast, QLD, Australia | CLN3 Batten disease: A timeline of symptom onset and disease progression |
| 14:30 | Heshadi P. Mandalawatta Menzies Medical Research Institute at the University of Tasmania Melbourne, VIC, Australia | Gene based therapies for neuronal ceroid lipofuscinosis |
| 14:45 | Moderated | Q&A and Panel Discussion |
| 15:00 | Exhibits Open | Refreshment Break |
| 15:30 | Jennifer T. Saville SA Pathology Adelaide, SA, Australia | Diagnosing the sphingolipidoses: From research to clinical practice |
| 15:45 | Bianca K. Thredgold SA Pathology Adelaide, SA, Australia | Development of a urinary oligosaccharide screen using mass spectrometry |
| 16:00 | Moderated | Q&A and Panel Discussion |
| 16:15 | Jinyun Zou Peter MacCallum Cancer Center Melbourne, VIC, Australia | Lysosomal storage diseases and the effector function of cytotoxic T lymphocytes |
| 16:30 | Siyang Ding Latrobe Institute for Molecular Science Melbourne, VIC, Australia | A lipophagy reporter for potential diagnosis of lysosomal storage disorder diseases |
| 16:45 | Moderated | Q&A and Daily Wrap-Up |
| 17:15 | Collaboration Reception | Posters and Exhibits Open |
| 18:15 – 21:00 | Celebration Dinner | All Summit and Patient Conference participants are invited to relax and reconnect at the Collaboration Reception and Fabry Australia’s 30th Anniversary Celebration Dinner |
Sunday, 20 October, 2024
| 7:30 | Multidisciplinary team perspectives on finding and treating Fabry disease | Download Invitation Satellite Symposium Sponsored by Sanofi-Aventis Australia |
| 8:30 | Exhibits Open | |
| 9:00 | Sharon Ricardo Monash University Melbourne, VIC, Australia | Pathological insights into Fabry disease identifies ferroptosis in iPSC-derived podocytes |
| 9:15 | Jennifer Saville SA Pathology Adelaide, SA, Australia | Ceramide trihexoside and related sphingolipids in podocytes derived from Fabry disease patient fibroblasts |
| 9:30 | Kumaran Narayanan Monash University Malaysia Selangor, Malaysia | A new model for deciphering the role of oxidative stress in Fabry disease |
| 9:45 | Moderated | Q&A and Panel Discussion |
| 10:00 | Exhibits Open | Refreshment Break |
| 10:15 | Abhik Kansal Royal Melbourne Hospital Melbourne, VIC, Australia | Interpreting elevated troponin in Fabry disease patients |
| 10:30 | Michel Tchan Westmead Hospital Sydney, NSW, Australia | A case series of disproportionate elevations of cardiac troponin and macrotroponin in Fabry disease |
| 10:45 | Tess Aitken Royal Melbourne Hospital Melbourne, VIC, Australia | The effect of Fabry disease therapy on bone mineral density |
| 11:00 | Moderated | Q&A and Panel Discussion |
| 11:15 | Uma Ramaswami Royal Free Hospital London, United Kingdom | Changes in enzymatic activity of alpha galactosidase A in patients with Fabry disease treated with an oral chaperone therapy |
| 11:30 | Kathleen Nicholls Royal Melbourne Hospital Melbourne, VIC, Australia | FollowME Fabry pathfinders registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least 3 years |
| 11:45 | Gail Hilton Childhood Dementia Initiative Sydney, NSW, Australia | We don’t fit: Families navigating health and social care systems in the context of childhood dementia |
| 12:00 | Kris Elvidge Childhood Dementia Initiative Sydney, NSW, Australia | Childhood dementia: The collective impact and opportunities for intervention |
| 12:15 | Moderated | Q&A and Summit Wrap-Up |
Please note: titles, speakers and times are subject to change. This program is designed to be a CPD-eligible educational activity. Click here for more information.
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.