2025 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.


2025 Preliminary Programme

Friday, 24 October, 2025

14:00Maria Fuller
SA Pathology
Adelaide, SA, Australia
Current Status of Lysosomal Disease Research: Lab Aspects of Screening and Diagnosis
14:30Siyang Ding
La Trobe University
Melbourne, VIC, Australia
A Lipophagy Reporter for Potential Diagnosis of Lysosomal Storage Diseases
14:45Lachlan Wakeling
La Trobe University
Melbourne, VIC, Australia
Probing Lipophagy Dynamics in Lyososomal Diseases with Novel Fluorescent Reporter
15:00Kumaran Narayanan
Monash University Malaysia
Subang Jaya, Malaysia
Dual Action of Antioxidant Compounds on Oxidative Stress and Gb3 Levels in a Fabry Disease Cell Model
15:15ModeratedQ&A and Panel Discussion
15:30Afternoon Tea BreakExhibits Open
15:45Jennifer Saville
SA Pathology
Adelaide, SA, Australia
Upregulated Sphingolipid De Novo Synthesis Contributes to Ganglioside Dyshomeostasis in a Neuronal Model of Gaucher Disease
16:00Sharon Ricardo
Monash University
Melbourne, VIC, Australia
Tracking Lysosomal Dysfunction in Fabry Disease Using iPSC-derived Podocytes and Advanced Imaging
16:15Jennifer Saville
SA Pathology
Adelaide, SA, Australia
Diagnosing the Sphingolipidosese: From Research to Clinical Practice
16:30ModeratedQ&A and Panel Discussion
16:45Interactive Session ITBD
17:15Welcome ReceptionReception & Exhibits Open to All Attendees

Saturday, 25 October, 2025

08:55Michael Tchan
Westmead Hospital
Sydney, NSW, Australia
Welcome and Introduction
09:00Hsiang-Yu Lin
MacKay Memorial Hospital
Taipei, Taiwan
NBS Experience in Taiwan: How Are Patients Managed After NBS
09:30Uma Ramaswami
Royal Free Hospital
London, United Kingdom
The Changing Landscape of Lysosomal Diseases; Variants of Uncertain Significance (VUS)
10:00Jasmina Markulic
University of Adelaide
Adelaide, SA, Australia
Challenges in Diagnosing Lysosomal Disorders: The Importance of Combined Biochemical and Molecular Analysis
10:15Uma Ramaswami
Royal Free Hospital
London, United Kingdom
Gaucher Disease – Correlation of lyso-Gb1 with Biochemical Therapeutic Goals
10:30Huma 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
10:45ModeratedQ&A and Panel Discussion
11:00Morning Tea BreakExhibits Open
11:15Ya 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
11:30Ellie Van Velsen
Australian NPC Disease Foundation Inc
Endeavour Hills, VIC, Australia
An Australian Standard of Care for Niemann-Pick Disease Type C
11:45Huma 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
12:00ModeratedQ&A and Panel Discussion
12:15Lunch BreakLunch With Exhibitors
13:15Featured Speaker TBATopic TBA
13:45Yin-Hsiu Chien
National Taiwan University Hospital
Taipei, Taiwan
Central Nervous System-Targeted Gene Therapy for the Treatment of Neurocognitive Deficits in Mucopolysaccharidosis Type IIIB
14:00Maria 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)
14:15Shui Wong
University of Melbourne
Melbourne, VIC, Australia
Speech and Language Characteristics of Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
14:30Gail Hilton
Childhood Dementia Initiative
Warringah Mall,
NSW, Australia
International Models of Care for Childhood Dementia: An Investigation to Inform the Australian Context
14:45Farah Lamiable-Oulaidi
Victoria University of Wellington
Wellington, New Zealand
Advancing Krabbe Disease Treatment Through Combination Therapy
15:00ModeratedQ&A and Panel Discussion
15:15Afternoon Tea BreakExhibits Open
15:30Interactive Session IIThe Patient Advocate Group (PAG) Perspective
16:15Interactive Session IIIMachine Learning
17:00Sessions Conclude
17:15Poster SessionExhibits Open
18:15Collaboration Dinner

Sunday, 26 October, 2025

09:00Moeen AlSayed
King Faisal Specialist Hospital & Research Centre
Riyadh, Saudi Arabia
Current Status of Lysosomal Diseases in Saudi Arabia: Screening, Diagnostics and Treatment
09:30Mark 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
09:45Amro Sehly
University of Western Australia
Perth, WA, Australia
Cardiac MRI Analysis of Sex-based Differences in Patients with Anderson-Fabry Disease
10:00Benjamin Lynch
University of Notre Dame Sydney
Sydney, NSW, Australia
Tinnitus and Hearing Loss in Adult Males with Fabry Disease
10:15ModeratedQ&A and Panel Discussion
10:30Morning Tea BreakExhibits Open
10:45Mark Thomas
Royal Perth Hospital
Perth, WA, Australia
Fabry Disease and Kidney Transplant Outcomes: A Single-Centre Experience
11:00Uma 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)
11:15Paul Geenty
Westmead Hospital
Westmead, Sydney, Australia
Myocardial Work is Reduced in Anderson-Fabry Disease and Represents Subclinical Myocardial Dysfunction
11:30ModeratedQ&A and Panel Discussion
11:45Interactive Session IVTBD
12:15Summit 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.


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.