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Invited Speaker: Associate Professor David Szmulewicz - Objective Neurological assessment of Aboriginal people with MJD and SCA7

Wednesday, May 7, 2025
3:50 PM - 4:05 PM
DoubleTree by Hilton

Speaker

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Associate Professor David Szmulewicz
Head of Ataxia Service
Eye & Ear Hospital/bionics Institute

Objective Neurological assessment of Aboriginal people with MJD and SCA7

Biography

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’.
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Doctor Jonasz Jeremiasz Weber
Research Group Leader
Department of Human Genetics, Ruhr University Bochum, Germany

Analysing Missense SNPs in PRKN as Genetic Modifiers of Machado–Joseph Disease

Abstract

Biography

Dr. Jonasz J. Weber is a dedicated researcher in life sciences with a specialization in human genetics and molecular neuroscience. His career is defined by a profound commitment to unraveling the molecular mechanisms underlying neurodegenerative diseases and developing therapeutic strategies for conditions like Huntington’s disease (HD) and polyglutamine (polyQ) expansion-linked spinocerebellar ataxias (SCAs). Dr. Weber’s academic journey began with his undergraduate and predoctoral research at the Institute of Medical Genetics and Applied Genomics, University of Tübingen. Under the mentorship of Dr. Thorsten Schmidt, he investigated genetic modifiers of spinocerebellar ataxia type 3 (SCA3), gaining technical and theoretical expertise in molecular neuroscience. During his doctoral studies, jointly supervised by Dr. Jeannette Hübener-Schmid and Dr. Huu Phuc Nguyen, he explored calpain-dependent proteolytic processes in HD and SCA3. His innovative work, conducted using advanced biochemical, molecular genetic, and cell biological techniques, culminated in a summa cum laude doctorate. Following his PhD, Dr. Weber continued his research on calpains in polyQ diseases as a postdoctoral fellow at the University of Tübingen and later at the Ruhr University Bochum. During this period, he expanded his focus to neurodegradomics, a groundbreaking field analyzing proteolytic effects on neuronal function and degeneration. In the last three years, he established and led his own research group, fostering collaborations and mentoring emerging scientists. Dr. Weber’s scholarly contributions include 29 peer-reviewed publications, with first or co-first authorship in nine original research articles published in leading journals. His work has been supported by a grant from the German Research Foundation (DFG), and recognized with accolades such as the 2022 Murachi Postdoctoral Award from FASEB’s The Biology of Calpains in Health and Disease Conference. Driven by his passion for advancing molecular neuroscience, Dr. Weber aspires to solidify his position as a leading expert in neurodegradomics. He continues to advocate for the major scientific relevance and the therapeutic potential of his research for HD, SCAs, and other neurodegenerative conditions.
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