Researchers

The Ataxia Charlevoix-Saguenay Foundation research team is composed of many researchers located throughout the world.
The researchers are grouped by team. Their projects are described on the research page.


Dr. Bernard Brais
Co-director of the neuromuscular group of the Montreal Neurological Institute and Hospital
Team lead by Dr. Bernard Brais. Dr. Bernard Brais has completed a multidisciplinary training in neurology, genetics and history of medicine in order to devote his career to the advancement of knowledge on genesis of the genetic of the population in Quebec and its influence on health. Its research program covers more general concerns on the constitution of the regional genetic inheritances and its influence on the variable frequencies of the carriers of the mutations.
Dr. Bernard Brais is a senior researcher at the FRSQ and professor at the Department of Medicine at the University of Montreal. Since 1998, he is responsible for the Laboratory of neurogenetic of the motricity at the Research Center at the CHUM, Hospital Notre-Dame. The laboratory has three principal research topics: muscular dystrophies, sensitive neuritis and ataxias. In 2006, the Laboratory launched a vast project on the spastic recessive ataxia of Charlevoix-Saguenay (ARSACS) as a result of the support obtained from the Foundation of Ataxia of Charlevoix-Saguenay.
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Dr. Roxanne Larivière
Research Assistant
Dr. Roxanne Larivière , Phd. is a research assistant at the Centre Hospitalier de l 'Université de Montréal (CHUM, Notre-Dame Hospital). Her research focuses on the creation and characterization of the ARSACS model mice.
Dr. Larivière received her bachelor degree in medical biology from the Université du Québec at Trois-Rivières in 1998 and her doctorate in neuro sciences from McGill University in Montreal in 2004. During her doctoral studies, she focused on the role of the cytoskeletal proteins, neuronal intermediate filaments in the model mice of amyotrophic lateral sclerosis (ALS). Subsequently, her research focused on the creation and characterization of transgenic mice to understand more specifically the pathogenesis of ALS and the developement of an immunization technique for ALS.
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Dr. Peter McPherson, Ph.D.
Professor, Montreal Neurological Institute (MNI), McGill University.
Team lead by Dr. Peter McPherson. Dr. Peter McPherson is an Professor of Neurology and Neurosurgery and Anatomy and Cell Biology at the Montreal Neurological Institute (MNI), McGill University. He currently holds a James McGill Chair and is a Senior Scholar of the Fonds de la recherche en Santé du Québec (FRSQ). He previously held a Dawson Chair from McGill University and was a recipient of a Canadian Institutes of Health Research Investigator Award and a Medical Research Council of Canada Scholarship.
Dr. McPherson received both B.Sc. (1986) and M.Sc. (1988) degrees from the University of Manitoba and a Ph.D. in Neuroscience from the University of Iowa in 1992, where he trained in the laboratory of Dr. Kevin Campbell. He completed his post-doctoral training at Yale University School of Medicine with Dr. Pietro De Camilli. At each stage of his career, Dr. McPherson has made fundamental discoveries related to neuronal function. His doctoral research solved a long-standing question regarding one of the major mechanisms of caffeine action in the nervous system. His post-doctoral studies led to two landmark papers in Nature that laid the framework for studying the molecular mechanisms involved in controlling the cellular process of endocytosis, the means by which proteins, lipids and other important molecules enter the cell. Dr. McPherson joined the faculty at the MNI in 1995 as a fellow of the Alfred P. Sloan Foundation where he has carried on his pioneering work in endocytosis. His laboratory has used biochemical and molecular biological approaches to identify a number of novel proteins involved in controlling the endocytic pathway. His research has been seminal to linking endocytosis to different intracellular signaling mechanisms, the actin cytoskeleton and phospholipids. His studies have led to greater than 85 manuscripts in top scientific journals and he has been an invited speaker for approximately 75 national and international presentations. Dr. McPherson is active in scientific review as an ad hoc reviewer for numerous journals. In addition, he is the Guest Editor for the 2007 "Membranes and Organelles" issue of Current Opinion in Cell Biology and is a member of the editorial board of the Journal of Biological Chemistry.
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Vincent Gerard Francis
Neurological Sciences
Vincent Gerard Francis is a post doc member of the McPherson research team in Montreal working on ARSACS.
Heidi McBride
BSC, Ph.D. McGill University
Team lead by Heidi McBride. Heidi McBridge is a cell biologist at the Institute of Neurology, Montreal, McGill University.She btained her undergraduate degree in the Department of Biochemistry at McGill University in Montreal in 1991. She was awarded her PhD in 1996. During her PhD research, she uncovered novel principles in mitochondrial protein biogenesis, examining how mitochondrial proteins are correctly targeted for entry into the organelle. In 1996, she moved to the European Molecular Biology Laboratories in Heidelberg, Germany, to work with Dr. Marino Zerial studying the function of Rab GTPases and the molecular mechanisms that govern vesicular traffic within the early endosome.
Dr. R Anne McKinney
Associate Professor, Department of Pharmacology and Therapeutics, McGill University.
Team lead by Dr. R Anne McKinney. Dr. R Anne McKinney obtained her Ph.D. at the University of Ulster in 1992 after completing her BSc.(Hons) undergraduate degree in Biomedical Sciences at the University of Ulster, Northern Ireland. She then spent the next 5 years in the Department of Neurophysiology at the Brain Research Institute, University of Zurich as a postdoctoral fellow under the supervision of Profs S.M. Thompson and B.H. Gahwiler. In 1998 she obtained her own group at the Brain Research Institute University of Zurich.
Dr. McKinney's main research interest is the mechanism involved in the development and maintenance of excitatory synapses in the CNS, duringphysiological and pathological conditions. Her group's studies are concentrated on the hyppocampus, a brain region thought to be involved in learning and memory. The McKinney lab is using a combination of techniques including, 4- dimensional confocal laser scanning microscopy, analysis of receptor subtype localisation using seria l electron microscopy, transgenic animals and advanced electrophysiological techniques to investigate the structure and function of dendritic spine and their synapses. These methods allow them to assess the structural basis of synaptic function using multiple approaches. Dr. McKinney joined in 2005 the Department of Pharmacology and Theraputics at McGill University, Montreal. She has continued her studies which have led to manuscripts in top scientific peer- reviewed journals including PNAS, Nature Medicine and Nature Neuroscience and she has been an invited speaker for approximately 80 national and international presentations.
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Kalle Gehring
Professor, McGill University
Team lead by Dr. Kalle Gehring. Kalle Gehring is professor at the department of biochemistry at McGill University in Montreal. His research efforts are centered on the application of Nuclear Magnetic Resonance (NMR) spectroscopy to the study of protein and nucleic acid structures. His research laboratory combines techniques from chemistry, molecular biology and bio-informatics in the quest for a deeper understanding of molecular recognition in biological systems.
Dr. Eric Shoubridge, Ph.D.
Montreal Neurological Institute and Hospital, McGill University
Team lead by Dr. Eric Shoubridge. Dr. Shoubridge's laboratory focuses on the molecular genetics of mitochondrial diseases. For additional information on Dr. Shoubridge,click on Shoubridge .
www.mni.mcgill.ca
Dr. Alanna Watt
Department of Biology at McGill University
Team lead by Dr. Alanna Watt. Dr. Alanna Watt joined the Department of Biology at McGill University as an Assistant Professor in 2011. Dr. Watt obtained her PhD from Brandeis University where she studied homeostatic plasticity in the lab of Prof. Gina Turrigiano. This was followed by postdoctoral studies in the lab of Prof. Michael Häusser at University College London (UCL), where she identified a novel form of activity in the developing cerebellum.
The focus of the Watt lab is to understand circuit development in the cerebellum, working on both healthy development as well as mouse models of ataxia, including spinocerebellar ataxia type 6 (SCA6) and ARSACS. The Watt lab aims to understand the pathophysiological changes associated with cerebellar-related disease onset using a combination of techniques including 2-photon imaging combined with multiple whole-cell electrophysiology, behavior, and immunocytochemistry.
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Jason Young
Biochemist, McGill University
Jason Young is a biochemist at McGill University.
Dr. Paul Chapple
Senior Lecturer, Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Dr. Chapple was awarded a PhD by University College London (UCL) in 1997. The majority of his postdoctoral research was undertaken in the laboratory of Professor Michael Cheetham at the Institute of Ophthalmology, UCL. Here he investigated the cell biology of molecular chaperone proteins linked to human diseases, particularly neurodegenerative disorders.
He also spent a year in the laboratory of Dr Jean-Marc Gallo at the MRC Centre for Neurodegeneration Research, Kings College London, where he worked on tau RNA processing and its impairment in neurodegeneration. In 2005 Dr Chapple moved to Barts and to London to start his own research group. Dr. Chapple's research focuses on the biology of molecular chaperones. These proteins are important because they are crucial for the maintenance of cellular protein homeostasis (proteostasis) and other fundamental cellular processes. Moreover, some human diseases, including many neurodegenerative disorders, arise because of disrupted proteostasis, either caused by mutations, environmental factors, and/or defects in molecular chaperone systems. Dr Chapple first became interested in the ARSACS protein, sacsin, because it has some similarities to known molecular chaperones. In 2007 he was funded by the Medical Research Council UK to investigate the cellular role of sacsin. In 2009 his group published the first scientific paper characterizing the sacsin protein, in the journal Human Molecular Genetics.
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www.ncbi.nlm.nih.gov
Cynthia Gagnon
Ph.D., Physiotherapist
Cynthia Gagnon is a physiotherapist at the University of Quebec at Chicoutimi. She specializes in clinical evaluations and follow-up of neuromuscular diseases.
Dr. Kym Boycott, PHD
MD at the Children's Hospital of Easten Ontario
Dr. Boycott is a Clinical Geneticist at the Children's Hospital of Eastern Ontario and Investigator at the CHEO Research Institute. She is an Associate Professor and holds a Tier II Research Chair from the Faculty of Medicine in Neurogenetics at the University of Ottawa. Dr. Boycott completed the Royal College of Physician and Surgeons training program in Medical Genetics at the University of Calgary in 2005, after completing medical school at the University of Calgary in 2000. She received her PhD in Medical Genetics in 1997 from the University of Calgary.
Dr. Boycott's research, bringing together clinical medicine with basic science, is focused on elucidating the molecular pathogenesis of rare inherited neurological diseases using next-generation sequencing approaches. She is the Lead Investigator of the nation consortium FORGE Canada ('Finding of Rare Disease Genes in Canada') project which is investigating the molecular etiology of almost 200 rare pediatric diseases. Related to translating these discoveries to the clinic, Dr. Boycott is interested in facilitating incorporation of next-generation sequencing approaches to routine diagnostics and patient care. Dr. Boycott has been named as Co-Chair of the Diagnostics Scientific Committee for the International Rare Diseases Research Consortium (IRDiRC). In 2011, Dr. Boycott was named Distinguished Young Professor of the Year by the Faculty of Medicine at the University of Ottawa.
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Dr. Alex Mackenzie
Principal Investigator, CHEO Research Institute
Dr. Alex MacKenzie is a principal investigator at the CHEO Research Institute and a Professor in the Department of Medicine at the University of Ottawa. He is a specialist in the field of Spinal Muscular Atrophy, where he has published extensively in the areas of molecular genetics of pediatric disease.
Dr. MacKenzie and his team are developing a strategic toolbox and preclinical research pathway for inherited disorders and orphan diseases. The lab has identified gene subsets for three disorders - Duchenne Muscular Dystrophy, Myotonic Dystrophy, and Spinal Muscular Atrophy - and the goal is to broaden the research to include other genetic disorders.
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Dr. Filippo M. Santorelli
Director, Unit of Neurodegenerative and Neuromuscular Disorders, Department of Molecular Medicine and Neurogenetics, Italy
Dr. Santorelli gratuaded from the Cambridge University,USA and has a PHD from the La Sapienza University, Rome. The main domain of his research is the neurogenetic of neuromuscular and motor neuron disorders. His research project on ARSACS is entitled " Zebrafish in ARSACS".
Dr. Paola Giunti
Head of the Ataxia Centre at the Institute of Neurology/ National Hospital for Neurology and Neurosurgery, UCL/UCLH London, UK
Dr. Paola Giunti has a longstanding interest in the genetics of neurological disorders, in particular the inherited cerebellar ataxias and other movement disorders. She has been researching the mechanisms that underlie neuronal degeneration in the central and peripheral nervous systems. Her research team focuses on understanding the cellular and molecular mechanisms of neurodegenerative diseases with a particular emphasis on triplet repeat conditions. This implies the use of molecular and cell biology techniques and more recently, live imaging. Her aim is to translate the related findings of this research to patients in the next years.
Dr. Giunti is an active major contributor to two European consortiums on the inherited ataxias (EUROSCA and EFACTS). Through these studies, the natural history of the inherited ataxias has become clearer with important impact on prognosis and in the understanding of these diseases. In the last few years she has been actively studying the clinical and molecular basis of ARSACS. To facilitate the development of research into ataxia further, she established in 2005 an ataxia centre, the first in the UK. She has been involved in multinational and multicentre drug trials in Friedreich's ataxia.
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