Researcher

    Elsa Rossignol , M.D. , FRCPC , M.Sc.

    elsa.rossignol@umontreal.ca
    Elsa Rossignol
    Research Axis
    Brain and Child Development Axis
    Research Theme
    Neurodevelopmental diseases
    Address
    CHUSJ

    Phone
    514 345-4931 #6792

    Fax
    514 345-42372

    Title

    • Clinical Assistant Professor, Departments of Neurosciences and Pediatrics, University of Montréal, 2011

    Canadian Common CV

    Education

    • Post-doctoral Fellowship: developmental neurobiology, NYU, NY (USA) 2007-2010
    • Masters in Neuroscience/Neurognentics (MSc) : U. of Montreal, 2010
    • Residency in neuropediatrics, FRCP(c) : H. Ste-Justine (U of Montreal), 2004-2007
    • Residency in pediatrics, FRCP(c) : H. Ste-Justine (U of Montreal), 2000-2004
    • Medecine (MD) : U. McGill, 1995-2000

    Career Summary

    As a pediatric neurologist specialized in neurogenetics, I am interested in the genetic causes that underlie neurodevelopmental disorders (epilepsy, autism, intellectual deficiency). To investigate these conditions, my laboratory pursues two lines of research. First, we investigate the molecular basis of severe childhood epileptic disorders using whole genome sequencing in cohorts of patients with various seizure disorders. In parallel, we use genetic mice models of these disorders to investigate the mechanisms by which mutations in these genes alter the development or function of neurons and cause epilepsy. We are particularly interested in the development of GABAergic interneurons, the brain inhibitory neurons, and their role in regulating seizure generation and cognitive functions. For this purpose, we use targeted genetic ablation strategies to selectively ablate genes of interest in specific subtypes of interneurons. We study the consequences of these manipulations by combining in vivo EEG recordings, in vitro physiological recordings and immunohistochemical approaches. We believe that the combination of these basic science and clinical approaches will allow us to shed light on some of the underlying mechanisms that lead to severe epileptic syndromes, and potentially open the way for the development of new therapeutic strategies for these patients.

    Awards and Distinctions

    • Genome Canada, Large scale projects, 2013-2017
    • Subvention individuelle (PI principal), Operating Grant, IRSC, 2012-2017
    • Career Award, Clinical Research Scholar (Junior 2), FRQS, 2015-2016
    • Junior Investigator Award, Canadian League Against Epilepsy, 2015
    • Bourse salariale, clinicien-chercheur Junior I, FRQS, 2011-2015
    • RMGA (Réseau médecine génétique appliquée), 2013-2014
    • Fond de démarrage jeune chercheur, FRQS, 2011-2014
    • Subvention individuelle (PI principal), Scottish Rite Charitable Foundation of Canada, 2011-2014
    • Subvention individuelle, infrastructure, Demande FCI, Leader Fund, 2013
    • Subvention individuelle, Savoy Foundation, 2012-2013
    • Fond de démarrage, Centre de recherche de l’Hôpital Sainte-Justine, 2010
    • Bourse de formation post-diplôme professionnel, FRSQ, 2008-2010
    • Bourse de fomation post-doctorale, Université de Montréal, 2008
    • Bourse de recrutement, Fonds Irma-Levasseur, H. Ste-Justine, 2007
    • Prix Claude-Roy, distinction en recherche, H. Ste-Justine, 2007
    • Prix Luc-Chicoine, excellence en clinique, H. Ste-Justine, 2004
    • James McGill/ Clarke McLoed Scholarship, McGill U., 1995-2000

    Presentations

    • Next Generation Sequencing in pediatric epileptic encephalopathies.
      Neurology grand rounds, Montreal Childrens’ Hospital, McGill University, Montreal 07/2014
    • Conditional genetics and optogenetics to investigate neural circuits in genetic epilepsies.
      World Organization for the Neurobiology of Epilepsy (WONOEP) Symposium
      International League Against Epilepsy Congress, Montreal, 06/2013
    • Genetics of infantile spasms
      Canadian Association of Electrophysiology Technologists Symposium
      Canadian Neurological Sciences Federation Meeting, Montréal, 06/2013
    • Towards personalized medicine in epilepsy
      Issues in clinical epileptology: a view from the bench. In honor of P. Schwartzkroin
      Pajaro Dunes, California, USA. 05/2013.
    • Génétique de l’épilepsie : gènes et circuits
      Séminaire de recherche du département de Biochimie, U. de Montréal. 01/2013
    • Cortical interneurons dysfunction in Cav2.1 mutants.
      Neurology grand rounds, Darthmouth School of Medicine, NH, 04/2012
    • Cortical interneurons and epileptogenesis .
      Séminaire de neuroscience et neurologie, H. Notre-Dame (U. de Montreal), Montréal, 05/2011
    • Cortical interneurons and epileptogenesis in Cav2.1 mutants.
      New York University (NYU) Neuroscience Scientific Retreat, Mohonk, NY, 04/2011
    • Cortical inhibitory defects and epileptogenesis in Cav2.1 mutants.
      Investigator’s workshop, Highlights from the Gordon Conference. American Epilepsy Society. San Antonio, Tx, USA. 12/2010
    • Cortical inhibitory defects lead to generalized spike-wave seizures in Cav2.1 mutants.
      Gordon Research Conference on Epilepsy, Colby College, USA. 08/2010

    Publications

    1. J.L. Michaud, M. Lachance*, F.F. Hamdan, L. Carmant, A. Lortie, P. Diadori, P. Major, I. Meijer, E. Lemyre, P. Cossette, H. Mefford, G.A. Rouleau, E. Rossignol. Genetic landscape of infantile spasms. Human Molecular Genetics, Epub 04/2014.
    2. E. Rossignol, I. Kruglikov, A.M.J.M. van den Maagdenberg, B. Rudy, G. Fishell. Cav2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures. Annals Neurology, Epub, April 2013 doi: 10.1002/ana.23913.
    3. J. Patel, E. Rossignol, M. Rice, R. Machold. Opposing regulation of dopaminergic activity and exploratory motor behavior by forebrain and brainstem cholinergic circuits. Nat Communications 2012 ; 3 : 1172
    4. E. Rossignol. Genetics and function of necortical GABAergic interneurons in neurodevelopmental disorders.  Invited review. Neural Plasticity 2011; Epub 2011: 649325
    5. R. Batista-Brito, E. Rossignol, J. Hjerling-Leffler, M. Denaxa, M. Wegner, V. Lefebvre, V Pahnis, G Fishell. The cell-intrinsic requirement of SOX6 for cortical interneuron development. Neuron 2009 : 63: 466-481.
 

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