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The Research Team


Dr. Bernard Brais, M.D., M. Phil., Ph.D. - Director of the Laboratory of neurogenetic of the motricity at the Research Center at the CHUM.

Dr. Bernard Brais has completed a multidisciplinary training in neurology, genetics and historybrais 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.


Marie-Josée Dicaire, Research Assistant at the Laboratory of neurogenetic of the motricity at the Research Center at the CHUM.

Marie-Josée Dicaire, B.Sc., is a research assistant at the CHUM - Notre-Dame Hospital. SinceDicaire 1998, she is conducting research on the oculopharyngeal muscular dystrophy. Marie-Josée Dicaire has a B.A. in biology with specialization in microbiology from the University of Montreal. Initially she has been involved on various research projects such as breast cancer, coagulation of blood and on the repetitive sequences of the human genome.

In 1998, she joined Dr. Bernard Brais in the setting-up of the Laboratory of neurogenetic of motricity at the CHUM Research center at the Notre-Dame Hospital.

Her work and technical expertise have resulted also in several scientific publications.


Alexey Denisov, MSc. - 1979, PhD. - 1987.

Alexey Denisov is a NMR spectroscopy scientist with research interests in structure and Denisovreactivity of organic compounds, natural products and biopolymers. He graduated from Department of Chemical Physics of Novosibirsk University (Russia), and completed a Doctorate thesis in organic chemistry NMR (study of long-range 13C-1H and 13C-13C coupling constants in heteroaromatic compounds), with a principal application in biomolecular NMR.

Author of 70 research papers. His current field of investigation is in the area of structures of protein-peptide and oligonucleotide complexes by 2D/3D NMR and molecular modeling. Dr. Alex Parker has accepted to work on the Ataxia research project starting in the Fall 2007. His research efforts will be focused on the development of the animal model using the C. Elegans worm. Two other members have joined the research team. We are very pleased to have Christian Dabrowski, and Guennadi Kozlov working on the project.


Dr R Anne McKinney, Associate Professor, Department of Pharmacology and Therapeutics, McGill University.

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.


Ms. Emily Deane, research assistant

Ms. Emily Deane is a graduate student from McGill University in the Department of Neurology and Neurosurgery. She received a BSc in Anatomy and Cell Biology from McGill. Ms Deane joined the McKinney Lab in 2008 to complete an honors research project where she investigated the phenomena of injury-induced axonal reorganization postulated to underlie post-traumatic epilepsy. Originally from Ottawa, she also participated in clinical research at the University of Ottawa Heart Institute in a group grant project for clopidogrel non-response. Following completion of her Master's in Neuroscience, Ms. Deane plans to apply to medical school, in hopes of pursuing a career as a surgeon. She is passionate about combining basic science with opportunities to contribute to the improvement of human health.

 


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 (www.ncbi.nlm.nih.gov/pmc/articles/PMC2667285/).


Contributors to the research project

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Dr. Michel L.Tremblay, Professor and Director of the Cancer Research Center at McGill University.

Dr. Michel L. Tremblay has a Ph.D. from the McMaster University in Hamilton. His thesis was on the action mechanisms of the oncogenic genes of the Adénovirus. With a post-doctoral scholarship from the INCC, he continued his studies at the National Institute of Health (NIH) where he created the first animal model with a human disease by homologous recombinationTremblay of the cells. Indeed, he is the first person to create a transgenic model by knock-out of the Gaucher disease which was used thereafter to identify new treatments of this disorder.

In1992, he became assistant professor at the Department of Biochemistry of McGill University and cloned the genes of several new tyrosine phosphatase proteins suspected then to have a modulating effect in the tumorigenese and in cancer. The granting of funds from the IRSC, INCC, SRC and NIH made it possible for Dr. Tremblay to continue his research on the characterization of the previously cloned genes which results have been published in the best scientific international newspapers.

Thereafter, the laboratory of Dr. Tremblay in collaboration with Dr. B. Kennedy de Merck-Frost will be the first to publish the modulating role of PTP1B on the receiver of insulin in the prestigious scientific review Science. Always regarded as a first choice for the treatment of the diabetes and obesity, his work brought nearly about fifty pharmaceutical companies to develop inhibitors of this phosphatase of which some are at present time at the clinical phases. Dr. Tremblay has published more than 90 scientific reports on the function of other members of this family of the PTP identified in cancer, in neuronal regeneration, and in other animal models of human diseases from where he has acquired an international fame in this field of research.

Dr. Tremblay is Director of the Cancer Research center at McGill University and of the new Cancer group of the FRSQ since 2000. Furthermore, he has started recently two biotechnology companies based on his research expertise and has one of the largest number of researchers from McGill University.

He is on the Board of directors of the Fonds de recherche en santé du Québec (FRSQ) and recipient of Bourses de chercheurs-nationaux du FRSQ et de Professeur James McGill. He is the titular of the Chaire Jeanne-and-J. - Louis-Lévesque for research on cancer at the McGill University. Recently, he has been named at the Société Royale du Canada.


Dr. Peter McPherson, Ph.D., Associate Professor, Montreal Neurological Institute (MNI), McGill University.

Dr. Peter McPherson is an Associate 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 duMcPherson 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.


Martine Girard , Ph.D. in Neurological Sciences and member of DR. McPherson's team

Martine Girard completed her Bachelor of Medical Biology in 1999 and her Master in Biophysics and Cell Biology in 2001 at the University of Quebec at Trois-Rivieres. Her thesis subject was to characterize the effect of IP6 on the endocytosis of AMPA receptors and NMDA receptors which are essential in the learning process. Subsequently, she worked as a research technician at the Royal Victoria Hospital.

In 2002, Martine joined Dr. Peter McPherson’s and completed her Ph.D. in Neurological Sciences at McGill University in 2008. During her doctoral studies, she discovered the new proteins involved in endocytosis and intracellular traffic. One of these proteins could even be involved in the traffic of the receptor. A bad traffic of the receptor EGFR could be involved in several cancers.

Martine is currently working on the protein sacsin to identify and characterize proteins that interact with the sacsin. Another objective of the project is to determine what is the consequence of the absence of sacsin in neurons.


Dr Yves Robitaille, neuropathologist, professor at the Department of pathology and cellular biology, University of Montreal, Centre hospitalier, Sainte-Justine Hospital.

Dr Yves Robitaille has been working for 35 years as a clinical and fundamental neuropathologist. Between 1979 and 1992, he was a professor at McGill University and at the neurological Institute of Montreal.

RobitailleHis interest was not only in neuropathology but also in the basic mechanisms of the focal epilepsy, and gradually, in the neurodegenerative diseases of children and adults. Since 1992, he is a professor at the Department of pathology and cellular biology of the University of Montreal.His principal place of work is the university complex of Sainte-Justine hospital in Montreal.

Dr Robitaille has published nearly 170 articles revised by committees and more than one hundred briefs for various scientific organizations. He believes that the molecular exploration of the normal and mutated sacsine constitutes a major objective of research, suited to largely improving our knowledge on the basic mechanisms of the neurodegenerative diseases in general. As investigator of neuropathology of the ARSACS, he has established an autopsic database of which the specimens are used to support efforts of multidisciplinary research. Also, he has initiated and maintained up to date the GeneClinics web site, which is considered throughout the world as a major site of reference on ARSACS.


Isabelle Thiffault, Doctorate student at the Research Center of the University of Montreal (CHUM).

Isabelle Thiffault, Mr. Sc. is a student at the doctorate level at the Research Center of the ThiffaultUniversity of Montreal (CHUM). She is focusing her efforts on the cloning and the characterization of transferred gene responsible for the ataxia. Her research is also supported by the FRSQ (doctorate scholarsip training program), the IRSC and by the Canadian Association of the families of ataxias. She has a B.A. in medical biology from the University of Quebec in Trois-Rivières (2001) and a master in human genetics from the University McGill (2004).

During her formation, she carried out several training researchprograms on cancer of the colon, prostate, breast and on the infantile syndrome of Proteus. She is on the Board of the FRSQ, as the student representative of the higher education cycles, and on the Student Council.

 


Dr Alex Parker has accepted to collaborate this Fall to the ARSACS research project. He will contribute to the development of the worm C. Elegans.


Dr Grant Mitchell, Dr Imed Gallouzi, Dr Anthoula Lazaris, Dr Mitra Crown, Christian Dabrowski and Guennadi Kozlovse will also contribute to the reseach project. .







© 2009 Ataxia of Charlevoix-Saguenay Foundation. All rights reserved.