2025 Speakers

Moeenaldeen AlSayed, MD, FACMG, MBA

King Faisal Specialist Hospital & Research Centre; Al-Faisal University, Riyadh

Consultant clinical geneticist and professor of genetics in Riyadh. Leads adult genetics and genetic counselling services; interests include founder mutations, LSD screening and treatment, and metabolic disorders.

Huma Cheema, Professor of Pediatric Gastroenterology and Hepatology, University of Child Health Sciences, Lahore, Founder and Director, Rare Diseases Center, UCHS

University of Child Health Sciences, Lahore, Pakistan

Dr. Huma Cheema has a special interest in rare diseases and established the first Center for Rare Diseases in Pakistan at the University of Child Health Sciences. In a developing country like Pakistan, she works with the government and international partners to improve access to diagnosis and treatment of rare diseases.

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Nancy Yin-Hsiu Chien

National Taiwan University Hospital

Dr Yin-Hsiu Chien is a clinical professor at the Department of Pediatrics at the National Taiwan University, Taiwan, and an attending physician at the Department of Medical Genetics and Pediatrics at the National Taiwan University Hospital. She participates in research on Pompe disease, focusing especially on early diagnosis and treatment improvement. She is the director of the newborn screening center at National Taiwan University Hospital, which routinely screens around one-third of newborn infants in Taiwan.

Jonathan Craig

Flinders University, Adelaide

Vice President and Executive Dean, College of Medicine and Public Health. Kidney disease researcher and Chair of Australia’s Medical Services Advisory Committee (MSAC).

Dr. Siyang Ding

Department of Biochemistry and Chemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne, VIC, Australia

Dr Siyang Ding received her PhD in chemistry from La Trobe University. She is currently a postdoctoral researcher under supervision of Prof Yuning Hong at La Trobe Institute for Molecular Science. Her research focuses on development of chemical fluorescent tools for understanding protein chemistry and cellular activities in diseases. She is the recipient of RSC Researcher Development Grant (2022) and LIMS Fellows Career Development Award (2022).

Maria Fuller, Professor, University of Adelaide

National Referral Laboratory

Professor Maria Fuller leads the National Referral Laboratory that provides diagnostic services for lysosomal disorders. She has a conjoint academic appointment with the University of Adelaide as a research leader at the Robinson Research Institute. Maria has a long-standing interest in improving the efficiency and accuracy of lysosomal disease diagnosis, as well as trying to understand mechanisms underlying their pathology.

Paul Geenty, Cardiology Research Fellow

Westmead Hospital

Paul is a cardiology research fellow at Westmead Hospital and is currently undertaking a PhD at the University of Sydney, focusing on advanced imaging techniques and cardiomyopathies.

Gail Hilton, Director of Programs

Childhood Dementia Initiative

With a BSc in Biology and an MA in Development Studies, Gail heads up the Childhood Dementia Initiative’s research, advocacy, and systemic change work.

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Dr. Ya Hui Hung

The Florey Institute of Neuroscience and Mental Health

Dr. Ya Hui Hung is a Senior Research Fellow at the Florey Institute of Neuroscience and Mental Health in Melbourne, leading development of a CNS-targeted mRNA gene therapy platform for childhood dementia, with Niemann-Pick Disease Type C as the lead indication. Her research has spanned Menkes disease, copper metabolism, and mRNA therapeutics for NP-C and Alzheimer’s disease. She is also a scientific advisor to the Australian NPC Disease Foundation and an active member of the Childhood Dementia Research Alliance.

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Dr. Farah Lamiable-Oulaidi

Ferrier Research Institute – Victoria University of Wellington

Dr. Farah Lamiable-Oulaidi leads the Carbohydrate Chemistry group at the Ferrier Research Institute – Victoria University of Wellington, New Zealand. Her team is focused on developing novel small-molecule treatments for Krabbe disease.

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Hsiang-Yu Lin, Professor and Chief, Department of Pediatric Genetics

MacKay Memorial Hospital

Dr. Hsiang-Yu Lin is a professor at MacKay Medical College and Director of Pediatric Genetics and the Rare Disease Center at MacKay Memorial Hospital, Taipei. He has received national awards for excellence in pediatric and metabolic research and has published over 150 scientific papers.

Benjamin Lynch, BSc

University of Notre Dame Australia

Benjamin Lynch is a science graduate from the University of Melbourne and a current Medicine student at the University of Notre Dame, Sydney Campus. He is completing research with Dr. Kathleen Nicholls and the Fabry Disease team at the Royal Melbourne Hospital.

Dr. Jasmina Markulic, Molecular Lead, National Referral Laboratory, SA Health Postdoctoral Researcher

Robinson Research Institute, University of Adelaide

Dr Jasmina Markulic is the Molecular Scientific Lead for the National Referral Laboratory (NRL) at Adelaide’s Women’s and Children’s Hospital. Dr Markulic is an early-career researcher who graduated with a PhD in biochemistry and molecular biology at the University of Melbourne in 2021. Following her PhD, Dr Markulic began her career in diagnostic medicine as a Medical Scientist with the NRL in 2022. Although a full-time diagnostic scientist, Dr Markulic is also actively involved in research at the NRL. Jasmina became an Affiliate Lecturer with the University of Adelaide in 2023 and supervises and mentors undergraduate and postgraduate students.

Associate Professor Kumaran Narayanan

Monash University Malaysia

Kumaran Narayanan is Associate Professor and Deputy Head (Research and Development) at the Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia. His research focuses on developing genetic and pharmacological approaches for human metabolic diseases.

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Torayuki Okuyama, MD, PhD

Saitama Medical University; National Center for Child Health and Development, Japan

Professor leading clinical research in MPS II, including long‑term ERT and gene therapy programs; recognized leader in genomic medicine for rare pediatric disorders.

Uma Ramaswami, Consultant in Inherited Metabolic Disorders

Royal Free Hospital, London, and University College London

Uma is a consultant in inherited metabolic disorders and the clinical lead for the Lysosomal Storage Disorders (LSD) unit at the Royal Free Hospital. Uma’s clinical research interests include understanding the natural history and disease progression in LSDs, and she has been a principal investigator for many pivotal clinical trials of new therapies in LSDs.

Professor Sharon Ricardo

Biomedicine Discovery Institute, Monash University

Sharon leads a research group in the Monash Biomedicine Discovery Institute, specialising in kidney disease and regenerative medicine within the Department of Pharmacology. As Head of the Kidney Therapeutics and Stem Cell Laboratory, her research uses experimental rodent models and pluripotent stem cell modelling to pioneer innovative cell-based therapies to mitigate kidney disease. Her discoveries have resulted in more than 115 publications in the field, including the first report on the derivation of induced pluripotent stem cells from human kidneys and translational research evidenced by seven granted international patents.

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Dr. Jennifer Saville

SA Pathology, University of Adelaide

Jennifer Saville is the Substrate Scientific Lead of the National Referral Laboratory (NRL) for lysosomal storage disorders and oversees all substrate diagnostic testing. Jennifer is also an affiliate senior lecturer at the University of Adelaide and has a research interest in understanding the pathological mechanisms behind these disorders and developing improved diagnostic testing for our patients.

Dr Amro Sehly, MBBS

Fiona Stanley Hospital, The University of Western Australia

Amro Sehly is a Cardiology Advanced Trainee at Fiona Stanley Hospital in Perth, WA, and an MPhil candidate at the University of Western Australia. He has a keen interest in cardiac imaging and strain analysis, has multiple first-author publications in this area, and has presented his work at National and International conferences.

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Michel Tchan, 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 the Head of Department, Genetic Medicine at Westmead Hospital in Sydney, and Clinical Associate Professor at the University of Sydney. He is responsible for the NSW Adult Genetic Metabolic Disorders Clinic. His research interests include clinical aspects of the lysosomal storage disorders, the neurological consequences of phenylketonuria in adults, and clinical trials of novel therapies for genetic disorders.

Mark Thomas, Clinical Professor

Dept of Nephrology, Royal Perth Hospital

Prof Thomas is an adult nephrologist at Royal Perth Hospital and leads the Western Australian Fabry Disease programme, which cares for over 90 patients via a multidisciplinary team. He has collaborated in trials of migalastat, lucerostat, AVROBIO lentiviral gene therapy, and 4DMT-310 gene therapy for Fabry Disease. He is a member of the Advisory Boards for Sanofi NXT Registry, Amicus, and the patient support group Fabry Australia. He presented on Fabry Disease at many meetings across Europe, Asia, and the annual WORLDSymposiums.

Ellie Van Velsen, BSc MGH

Australian NPC Disease Foundation Inc., Monash Partners Comprehensive Cancer Consortium

Ellie Van Velsen is the care and guidelines project coordinator at the Australian NPC Disease Foundation. She has a Master’s of Genomics & Health from the University of Melbourne and over three years of support work experience in the disability sector. Due to her educational background and having a family impacted by NPC disease, she is deeply passionate about community involvement and advocacy in the rare disease sector.

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Lachlan Wakeling

La Trobe University

Lachlan Wakeling is pursuing a Master of Biotechnology and Bioinformatics at La Trobe University. He works under the supervision of Yuning Hong and Siyang Ding in the Hong Lab, where his research focuses on developing and applying a novel fluorescent dye to monitor lipid droplet accumulation within lysosomes.

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Shui Jen Wong

Murdoch Children’s Research Institute

Shui Jen is a speech pathologist and PhD candidate at the University of Melbourne, based at Murdoch Children’s Research Institute. Her research focuses on augmentative and alternative communication (AAC) in childhood dementia. Shui Jen will present on the speech and language phenotype of Sanfilippo syndrome.

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Hui-Ying Yeh, Medical Technologist

Department of Medical Genetics, National Taiwan University Hospital

Hui-Ying Yeh, MS, is a Senior Medical Technologist in the Department of Medical Genetics at National Taiwan University Hospital. She specializes in lysosomal storage disorder testing and molecular diagnostics.