Julie M. Gauthier , Ph.D. , M.Sc.
    Julie M. Gauthier
    Research Axis
    Brain and Child Development Axis
    Research Theme
    Neurodevelopmental diseases

    514-345-4931 ext.3601


    • Clinical assistant professor, Department pf pediatrics, Faculty of Medicine, Université de Montréal
    • Molecular Geneticist, molecular diagnostic lab, CHU Sainte-Justine


    • Canadian College of Medical Geneticist, molecular training, CHU Ste-Justine
    • PhD, HUman genetics, McGill University
    • MSc, Neurobiology, Université Laval, Québec
    • BSc, Biology, Université du Québec à Trois-Rivières

    Research Interests

    My main interests are in identifying the genetic causes of hereditary hemostasis and angioedema disorders, neurodevelopmental diseases and other rare diseases. The goal of my research is to be able to develop genomic tests for these groups of conditions, to be able to better understand their molecular mechanisms and thus be able to develop personalized genomic tests in order to improve the diagnostic odyssey for these patients.

    Research Topics

    • Genetics of hemostasis and hereditary angioedema disorders
    • Genetics of neurodevelopmental diseases (ID, epilepsy, ASD) and rare diseases
    • Evaluation of new sequencing technologies and its implications in molecular diagnostics

    Awards and Distinctions

    • Young Scientist Travel Award, Human Genome Organisation International Limited. Genève, Suisse.
    • Research trainee from the Canadian Institutes of Health Research
    • Canada Excellence Scholarships for studies in Science, Engineering and Technology


    • Diagnostic d’angioedème héréditaire avec C1 normal (Type 3) ; quoi de neuf ? Angioedème héréditaire du Québec, Journée éducative 2022.
    • Panel NGS F8/VWF. Roche Diagnostic.


    • Dubé, Evemie; Merlen, Clémence; Bonnefoy, Arnaud; Pilon, Josie; Zourikian, Nichan; Gauthier, Julie; St-Louis, Jean; Rivard, Georges-Etienne. Switching to emicizumab: a prospective surveillance study in haemophilia A subjects with inhibitors. Haemophilia 2022 Oct 31.
    • Marjolaine Champagne, Gabriella A. Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland, Jean-François Soucy, Grant A. Mitchell. Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency. JIMD reports. First published: 06 June 2022.
    • Marceau F, Rivard GE, Hébert J, Gauthier J, Bachelard H, Gangnus T, Burckhardt BB. Picomolar Sensitivity Analysis of Multiple Bradykinin-Related Peptides in the Blood Plasma of Patients with Hereditary Angioedema in Remission: A Pilot Study. Front Allergy. 2022 Feb 11;3.
    • Fahiminiya S, Rivard GE, Scott P, Montpetit A, Bacot F, St-Louis J, Mitchell GA, Foulkes WD, Soucy JF, Gauthier J. A full molecular picture of F8 intron 1 inversion created with optical genome mapping. Haemophilia. 2021 Jul 7.
    • Dubé E, Gauthier J, Merlen C, Bonnefoy A, Couture F, Lillicrap D, Rivard GE. The diagnosis of a haemophilia A carrier over 2 decades. Haemophilia. 2021 Jan;27(1):e133-e136.
    • Lassalle F, Jourdy Y, Jouan L, Swystun L, Gauthier J, Zawadzki C, Goudemand J, Susen S, Rivard GE, Lillicrap D. The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays. Haemophilia. 2020 Nov;26(6):1056-1063.
    • Marceau F, Rivard GE, Gauthier JM, Binkley KE, Bonnefoy A, Boccon-Gibod I, Bouillet L, Picard M, Levesque G, Elfassy HL, Bachelard H, Hébert J, Bork K. Measurement of Bradykinin Formation and Degradation in Blood Plasma: Relevance for Acquired Angioedema Associated With Angiotensin Converting Enzyme Inhibition and for Hereditary Angioedema Due to Factor XII or Plasminogen Gene Variants. Front Med (Lausanne). 2020 Jul 17;7:358.
    • Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur J Hum Genet. 2020 Apr;28(4):461-468.
    • Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clément V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguère Y, Forest JC, Little J, Karsan A, Rouleau G. Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study. Eur J Hum Genet. 2019 Nov;27(11):1701-1715.
    • Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, Henderson LB, Lorenzo K, Wallace SE, Glass IA, Hamdan FF, Michaud JL, Rouleau GA, Campeau PM. Recessive mutations in VPS13D cause childhood-onset movement disorders. Ann Neurol. 2018 Jun;83(6):1089-1095.

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