Preliminary Programme – Lysosomal Disease Summit

13:55	Sheridan Campbell Fabry Australia	Welcome and Introduction
14:00	Maria Fuller SA Pathology Adelaide, SA, Australia	Current Status of Lysosomal Disease Research: Lab Aspects of Screening and Diagnosis
14:15	Uma Ramaswami Royal Free Hospital London, United Kingdom	The Changing Landscape of Lysosomal Diseases; Variants of Uncertain Significance (VUS)
14:30	Siyang Ding La Trobe University Melbourne, VIC, Australia	A Lipophagy Reporter for Potential Diagnosis of Lysosomal Storage Diseases
14:45	Lachlan Wakeling La Trobe University Melbourne, VIC, Australia	Probing Lipophagy Dynamics in Lyososomal Diseases with Novel Fluorescent Reporter
15:00	Kumaran Narayanan Monash University Malaysia Subang Jaya, Malaysia	Dual Action of Antioxidant Compounds on Oxidative Stress and Gb3 Levels in a Fabry Disease Cell Model
15:15	Moderated	Q&A and Panel Discussion
15:30	Afternoon Tea Break	Exhibits Open
15:45	Jennifer Saville SA Pathology Adelaide, SA, Australia	Upregulated Sphingolipid De Novo Synthesis Contributes to Ganglioside Dyshomeostasis in a Neuronal Model of Gaucher Disease
16:00	Benjamin Lynch University of Notre Dame Sydney Sydney, NSW, Australia	Tinnitus and Hearing Loss in Adult Males with Fabry Disease
16:15	Jennifer Saville SA Pathology Adelaide, SA, Australia	Diagnosing the Sphingolipidosese: From Research to Clinical Practice
16:30	Moderated	Q&A and Panel Discussion
16:45	Interactive Session I	Let’s Listen: Experts, Advocates, and Action
17:45	Satellite Symposium	Recent Advances in the Treatment of Lysosomal Disorders: New Options and the Growing Body of Evidence
18:45	Welcome Reception	Reception & Exhibits Open to All Attendees

08:55	Michael Tchan Westmead Hospital Sydney, NSW, Australia	Welcome and Introduction
09:00	Hsiang-Yu Lin MacKay Memorial Hospital Taipei, Taiwan	NBS Experience in Taiwan: How Are Patients Managed After NBS
09:30	Jonathan Craig Flinders University Adelaide, SA, Australia	The Process for Expanding the NBS in Australia and the Role of the Medical Services Advisory Committee
10:00	Avanti Shrikumar University of Sydney Sydney, NSW Australia	Whole Brain Tractography from Diffusion MRI in Rare Genetic Diseases: Phenylketonuria as a Paradigm for Using Machine Learning to Predict Biochemistry
10:15	Uma Ramaswami Royal Free Hospital London, United Kingdom	Gaucher Disease – Correlation of lyso-Gb1 with Biochemical Therapeutic Goals
10:30	Huma Arshad Cheema University of Child Health Sciences Lahore Lahore, Pakistan	Phenotypic Spectrum of Gaucher Disease (GD) Type 3 in Pakistani Children and Response to ERT
10:45	Moderated	Q&A and Panel Discussion
11:00	Morning Tea Break	Exhibits Open
11:15	Ya Hui Hung The Florey Institute of Neuroscience and Mental Health Parkville, VIC, Australia	An mRNA Gene Therapy for Niemann-Pick Disease Type C1: Preliminary Results and Ongoing Challenges
11:30	Ellie Van Velsen Australian NPC Disease Foundation Inc Endeavour Hills, VIC, Australia	Australia’s First Standard of Care for Niemann-Pick Disease Type C
11:45	Huma Arshad Cheema University of Child Health Sciences Lahore Lahore, Pakistan	Clinical Response and Safety of Enzyme Replacement Therapy in Pediatric Patients with Niemann-Pick Disease Type B
12:00	Moderated	Q&A and Panel Discussion
12:15	Lunch Break	Lunch With Exhibitors
13:15	Kathy Nicholls Royal Melbourne Hospital	An Update on Gene Therapy for Fabry Disease
13:30	Cassidy Tran Royal Melbourne Hospital	DNA Methylation as a Determinant of Phenotype in an X Linked Disease
13:45	Gail Hilton Childhood Dementia Initiative Warringah Mall, NSW, Australia	International Models of Care for Childhood Dementia: An Investigation to Inform the Australian Context
14:00	Moderated	Q&A and Panel Discussion
14:10	Yin-Hsiu Chien National Taiwan University Hospital Taipei, Taiwan	Central Nervous System-Targeted Gene Therapy for the Treatment of Neurocognitive Deficits in Mucopolysaccharidosis Type IIIB
14:25	Maria Fuller SA Pathology Adelaide, SA, Australia	UX111 Gene Therapy (rebisufligene etisparvovec) led to Reduced CSF Heparan Sulphate Exposure and Improved Bayley Scores in Children with Mucopolysaccharidosis IIIA (MPS IIIA)
14:40	Shui Wong University of Melbourne Melbourne, VIC, Australia	Speech and Language Characteristics of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
14:55	Farah Lamiable-Oulaidi Victoria University of Wellington Wellington, New Zealand	Advancing Krabbe Disease Treatment Through Combination Therapy
15:10	Moderated	Q&A and Panel Discussion
15:20	Afternoon Tea Break	Exhibits Open
15:30	Interactive Session II	Lysosomal Disease Roundtable: Global Experts, Open Dialogue
16:30	Sessions Conclude
17:00	Poster Session	Exhibits Open
18:15	Collaboration Dinner

09:00	Moeen AlSayed King Faisal Specialist Hospital & Research Centre Riyadh, Saudi Arabia	Current Status of Lysosomal Diseases in Saudi Arabia: Screening, Diagnostics and Treatment
09:30	Mark Thomas Royal Perth Hospital Perth, WA, Australia	Phase 1/2 Clinical Trial Evaluating 4D-310 in Adults with Fabry Disease Cardiomyopathy: Interim Analysis of Cardiac and Safety Outcomes in Patients with 21–42 Months of Follow up
09:45	Amro Sehly University of Western Australia Perth, WA, Australia	Cardiac MRI Analysis of Sex-based Differences in Patients with Anderson-Fabry Disease
10:00	Hui-Ying Yeh National Taiwan University Hospital Taipei, Taiwan	Fabry Disease Screening Using Dry Blood Spots in High-Risk Populations
10:15	Moderated	Q&A and Panel Discussion
10:30	Morning Tea Break	Exhibits Open
10:45	Mark Thomas Royal Perth Hospital Perth, WA, Australia	Fabry Disease and Kidney Transplant Outcomes: A Single-Centre Experience
11:00	Uma Ramaswami Royal Free Hospital London, United Kingdom	Clinical Depression and Impact on Patients with Lysosomal Storage Disorders (LSDs) – A Service Evaluation from a Specialist Centre Using the Beck’s Depression Inventory (BDI-II)
11:15	Paul Geenty Westmead Hospital Westmead, Sydney, Australia	Myocardial Work is Reduced in Anderson-Fabry Disease and Represents Subclinical Myocardial Dysfunction
11:30	Moderated	Q&A and Panel Discussion
11:45	Summit Concludes

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.

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We respectfully acknowledge the Traditional Owners of the land on which we gather, the Gadigal people of the Eora Nation, and pay our respects to their Elders, past and present. We recognize their continuing connection to land, waters, and culture, and honour their contributions to this region.