Symposium Speakers

Dr. Jennifer Faber

University of Bon

I studied medicine and mathematics. Together with my team, our main research aim is the optimization of MR imaging biomarkers particularly for ataxia disorders and thus, improvement of data-driven disease modeling. Our research focuses on cerebellar imaging and digital biomarkers in neurodegeneration – with particular emphasis on ataxias. We aim to improve diagnosis and monitor disease progression in ataxia and related movement disorders.

Dr. Massimo Pandolfo

Department of Neurology and Neurosurgery McGill University

Before coming to the Department of Neurology and Neurosurgery at McGill University in 2021, Dr. Massimo Pandolfo was Chief of Neurology at Erasme Hospital and Professor of Neurology at the Université Libre de Bruxelles (ULB), where he was also Director of the Laboratory of Experimental
Neurology.  His research interests focus on neurogenetics. An international collaboration led by Dr. Pandolfo was the first to identify the Friedreich’s ataxia (FRDA) gene in 1996. He has since contributed to the study of the molecular pathogenesis of the disease, to the development of therapeutics, and to its clinical characterization.

He has been the coordinator of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) and is currently on the Board of Directors of the Ataxia Charlevoix-Saguenay Foundation.  In addition, he has contributed to the study of several monogenic epilepsies and participated in genetic studies on common epilepsies and on epilepsy pharmacogenetics. He was also involved in genetic studies on brain degeneration with iron accumulation, paroxysmal non-kinesogenic dyskinesia, aceruloplasminemia, and on the predisposition to stroke.

Dr. Stephen Strack

Professor and Vice Chair of the Department of Neuroscience and Pharmacology University of Iowa

Born and raised in Germany, Dr. Stefan Strack is Professor and Vice Chair of the Department of Neuroscience and Pharmacology at the University of Iowa. His team develops new mouse models and leverages existing ones to find treatments for neurological disorders. His recent preclinical work on a rare neurodevelopmental disorder sparked an ongoing phase 2 clinical trial that is co-sponsored by a nonprofit foundation and the drug manufacturer. His team also pursues autosomal-dominant (SCA12) and – recessive ataxias (ARSACS). The la􀆩er work has been funded by the Canadian ARSACS foundation since 2015. Currently, his team is 1) creating new ARSACS mouse models, 2) repurposing drugs that are nearing FDA approval for other disorders and 3) delivering full-length Sacsin into the brain for gene therapy.

Dr. Francesca Maltecca

Ospedale San Raffaele Scientific Institute

Dr. Francesca Maltecca has a background in human genetics, with specialized training and expertise in inherited cerebellar ataxias, as well as extensive experience in cerebellar physiology and pathology. Her research focuses on dissecting the molecular mechanisms underlying inherited cerebellar ataxias, particularly those with primary or secondary mitochondrial origins, and extends to other neurodegenerative disorders, including dominant optic atrophy and multiple sclerosis. She has published seminal works on the pathogenesis of SCA28, SPAX5, and ARSACS. She is a member of the Ataxia Global Initiative, where she has co-coordinated the working group dedicated to preclinical trials in mouse models of ataxia for three years. Additionally, she is part of an international research consortium (Treat- ARCA) focused on drug development for recessive ataxias, funded by the European Joint Program for Rare Diseases. She has been recognized twice with the Young Investigator Award for Spinocerebellar Ataxia Research by the National Ataxia Foundation (US). Her expertise spans human genetics, cell biology, neurobiology, and mouse model phenotyping.

Dr. Justin Wolter

Assistant Professor Genetics Department University of Wisconsin

Dr. Wolter is an Assistant Professor in the Department of Genetics at the University of Wisconsin- Madison. His lab focuses on molecular mechanisms underlying neurodevelopmental disorders and neurodegenerative diseases. His team collaborates with many ARSACS researchers around the world, with the goal of developing data driven therapeutic strategies for ARSACS.

Dr. Esther Becker

Professor of Translational Neuroscience University of Oxford

Esther graduated from the University of Amsterdam cum laude with a MSc degree in Medical Biology in 2000. She then joined the Biomedical and Biological Sciences Program at Harvard University, where she performed her PhD training with Azad Bonni. Her work as a graduate student has made significant contributions to our understanding of the specific signaling mechanisms that regulate cell death in the
nervous system, particularly in the developing cerebellum. For her graduate studies, Esther was awarded a PhD Fellowship from the Boehringer Ingelheim Fonds and an Albert J. Ryan Foundation Fellowship. After completing her PhD in 2006, Esther joined Kay Davies’ group in the Department of Physiology, Anatomy and Genetics, having been awarded a Human Frontier Science Program Fellowship and later an Oxion Training Fellowship. In 2010, Esther was awarded a pres􀆟gious Dorothy Hodgkin Research Fellowship from the Royal Society to establish her own research programme, focussing on the genetic and molecular underpinnings of cerebellar ataxia in mice and humans. Esther joined the Nuffield Department of Clinical Neurosciences in 2020. She is also Co-Director of the Oxford Interdisciplinary Bioscience Doctoral Training Partnership and the newly awarded Interdisciplinary Life and Environmental Science Landscape Awards (ILESLA). Esther is Official Fellow (Cellular Life) at Reuben College. The Becker group aims to understand the genetic, molecular and cellular mechanisms that underlie
neurodevelopmental and neurodegenerative diseases of the cerebellum with the aim of developing better treatments for these disorders.