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.