2025 MJD International research conference

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Scientific Steering Committee

Associate Professor Angela Laird, PhD
Angela Laird leads an MJD research group at Macquarie University (Sydney, Australia). After her post-doctoral work using transgenic zebrafish within a leading Motor Neuron Disease laboratory at the University of Leuven, Belgium, she returned to Australia to establish the world’s first MJD zebrafish model, funded by the MJDF. Her group has been successful at producing and characterising MJD zebrafish and are currently testing the effect of various drugs on these fish with the aim of identifying potential MJD treatments. She has regularly welcomed MJD patients and families to the Sydney research facility to see the MJD zebrafish. 

Doctor rer. nat. Thorsten Schmidt, MME
Thorsten Schmidt studied Biochemistry at the Ruhr-University in Bochum, Germany. He received his PhD. (Dr. rer. nat.) in 2003 from the University of Rostock, Germany for his thesis entitled “The Pathogenesis of Spinocerebellar Ataxia Type 3". Since 2006, Dr. Schmidt has headed the SCA3 research group at the Institute of Medical Genetics and Applied Genomics of the Eberhard Karls University in Tuebingen, Germany. His research focuses on pathogenic mechanisms of Machado-Joseph disease. In order to dissect these mechanisms, Dr. Schmidt generated one of the first antibodies against ataxin-3 as well as several different transgenic mouse models of this disease. His group studies modifying factors of the disease and develops treatment strategies for MJD using molecular biological, protein biochemical and cell biological methods. 

Professor Laura Bannach Jardim
Laura Jardim is a professor in the Department of Internal Medicine at the Federal University of Rio Grande do Sul in Porto Alegre, Brazil. She is a physician scientist who identified the founder effect and cluster of a large population of spinocerebellar ataxia type 3 (MJD) in south Brazil. She has an extensive background in research, particularly focusing on neurodegenerative diseases such as Machado-Joseph Disease (MJD) and various types of spinocerebellar ataxias. Her work includes numerous publications on the genetic and clinical aspects of these conditions, contributing significantly to the understanding and potential treatments of these disorders.  Her contributions have significantly advanced the understanding of these complex diseases, providing a foundation for future research and potential therapies.  

Associate Professor Patrícia Maciel, PhD
Dr. Patrícia Maciel obtained a B.Sc. in Biochemistry (1993) and a Ph.D. in Biomedical Sciences - Genetics (1998) at the University of Porto, Portugal. Her doctoral studies included an initial training period at the Hôpital Necker-Enfants Malades, Paris, France, and four years at the Centre for Research in Neuroscience, McGill University, Montreal, Canada. Dr. Maciel is currently an Associate Professor of Biochemistry and Genetics at the School of Medicine and Director at the Health and Life Sciences Research Institute of the University of Minho – Braga, Portugal, where she develops works in the field of Neurogenetics, addressing molecular mechanisms of neuronal function and dysfunction, in connection to human neurodegenerative and neurodevelopmental diseases. Her major scientific contributions have been towards the mapping and cloning of the spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) causative gene, the study of genotype-phenotype correlations in this and other inherited neurological diseases, the identification of the normal cellular function of the protein ataxin-3 and its potential links to pathogenesis, as well as the development of transgenic mouse and C. elegans models of SCA3/MJD, useful for therapeutic drug discovery and development. This has led to an interest in studying specific cellular processes such as protein regulation by the ubiquitin-proteasome system in the nervous system. Recently, the Maciel team has contributed actively to the identification of drugs with important therapeutic effects in animal models of SCA3/MJD, through candidate testing and unbiased screening approaches. 

Associate Professor David Szmulewicz, PhD
David Szmulewicz is a neurologist, neuro-otologist and translational researcher interested in diseases that interfere with normal human movement, which include the cerebellar ataxias. He is the founding head of the Balance Disorders & Ataxia Service (BDAS) at the Royal Victorian Eye & Ear Hospital and neurologist to the Machado-Joseph Disease Foundation Ataxia Clinic, and the Monash Health Friedreich Ataxia clinic.  David’s research interests include the discovery of novel disease phenotypes and gene discovery e.g. Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), Spinocerebellar Ataxia Type 27B (SCA27B) and idiopathic Cerebellar Ataxia with Bilateral Vestibulopathy (iCABV), and the development of instrumented human movement metrics including the Ataxia Instrumented Measure (AIM) system and the development objective oculomotor tests. David is also the founding co-director of the Cerebellar Ataxia Registry (CARe) and the Cerebellar Ataxia Research Network of Australia (CARNA), as well as the Australian representative of the Ataxia Global initiative (AGI), whose aims include the establishment of an international database to cater for large scale natural history studies and treatment trial ‘readiness’. 

Associate Professor Ian Harding, PhD
Ian Harding, joined the QIMR Berghofer Medical Research Institute as a Group Leader in February 2024, where he leads the Cerebellum & Neurodegeneration Research Group. He is an NHMRC Emerging Leader Fellow and Honorary Associate Professor at UQ and Monash University. His team uses MRI and PET brain imaging, biofluid assays, and digital tools to measure and track disease expression and progression at mechanistic, neurobiological, and behavioural scales. His research primarily focusses on disorders that impact the cerebellum and cerebellar connections.

Doctor Howard Flavell
Howard Flavell is a Rehabilitation Medicine physician who has worked in the Northern Territory for 25 years. He has been primarily based in Darwin but has travelled widely throughout the Territory delivering services to remote communities. He has a special interest in Traumatic Brain Injury and runs a weekly head injury clinic at Palmerston Regional Hospital. Dr. Flavell graduated in Medicine in Melbourne in 1979 before doing his Rehabilitation Medicine training in Adelaide. He has always held a strong interest in the health of Aboriginal and Torres Strait Islander people and moved to Darwin as the first resident rehabilitation medicine physician in the Northern Territory in 1994. He also has a special interest in Machado-Joseph Disease (MJD) and is also a member of the Research Advisory Committee of the MJD Foundation.

Professor Deborah Theodoros
Deborah Theodoros is Professor and Head of the Division of Speech Pathology in the School of Health and Rehabilitation Sciences at the University of Queensland, Brisbane, Australia. She has published extensively on the assessment and treatment of adult motor speech disorders, and in the area of telepractice. She is co-director of the Telerehabilitation Research Unit at the University of Queensland and holds an executive position within the Telerehabilitation Special Interest Group of the American Telemedicine Association. Dr Theodoros has over 130 publications including journal articles, book chapters and two co-edited texts. She has received several large competitive research grants within Australia. Her research is regularly presented at international and national conferences. She has been an invited speaker at international conferences and seminars in the United Kingdom, United States, Canada, and Sweden. Dr Theodoros is an editorial consultant for several international speech pathology journals.

Professor Marnie Blewitt
Marnie Blewitt is the Acting Deputy Director of WEHI, and a NHMRC Leadership fellow. Marnie’s lab focuses on understanding the mechanisms of epigenetic control, and how such mechanisms can be manipulated in the context of disease. She uses functional genetic screens to identify epigenetic regulators, which she started as a PhD student with Emma Whitelaw at The University of Sydney (2005). Marnie took up a NHMRC Post- doctoral fellowship with Doug Hilton at WEHI in 2005 to work on the novel protein SMCHD1 that she identified in her PhD. In 2010, Marnie established her lab at WEHI, and in 2017 became a Division head, leading a group of labs focused on gene regulation. Her lab works on the fundamentals of epigenetic silencing alongside targeting epigenetic regulators for the treatment of rare diseases. The highlight awards Marnie’s work has attracted are the Australian Academy of Sciences Ruth Stephens Gani medal (2009) and more recently the 2024 Biochemical Society International Prize.