Jacques L. Michaud , M.D.
    Jacques L. Michaud
    Research Axis
    Brain and Child Development Axis
    Research Theme
    Neurodevelopmental diseases
    CHUSJ - Centre de Recherche

    514 345-4931 ext. 4740


    • Director, CHU Sainte-Justine Research Center
    • Professor of Pediatrics and Neurosciences, Université de Montréal

    Internship opportunity(ies)

    Research Interests

    My research interests are centered on the genetics of neuro-developmental disorders, including intellectual disability, autism and epilepsy. We are using genomic approaches to identify novel genes associated with these disorders. We also aim to study the function of some of these genes in cellular and animal models with the goal of developing therapeutic strategies. In the context of these functional studies, we are focusing our attention on genes that are involved in the development of neuronal circuits and synaptic plasticity, as these processes are particularly active during childhood and can be modulated by pharmacological agents.

    In parallel, my group is studying the use of genomic sequencing for the clinical investigation of rare disorders in the context of the Génome Québec/CHU Sainte-Justine Integrated Center for Clinical Genomics in Pediatrics. More specifically, we aim to evaluate the impact of these analyses on the investigation of specific groups of disorders and to define the optimal modalities of their use in clinical settings.


    1. Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi J, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. (2012). Mutations in C5ORF42 cause Joubert syndrome in the French-Canadian Population. American Journal of Human Genetics, 90:693-700.
    2. Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier M-P, Capo-Chichi J-M, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL. (2013) Recessive and dominant mutations in the retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. American Journal of Human Genetics, 93:765-72.
    3. Ruzzo EK, Capo-Chichi J-M, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL*, Goldstein DB*. (2013). Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron, 80:429-41. *equal contribution
    4. Perrault I, Hamdan FF, Rio M, Décarie J-C, Boddaert N, Maranda B, Lortie A, Nabbout R, Capo-Chichi J, Roux P, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. (2014). Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American Journal of Human Genetics, 94:891-7.
    5. Hamdan FF, Srour M, Capo-Chichi J-M, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL. (2014). De novo mutations in moderate or severe intellectual disability. PLoS Genetics, 10:e1004772.
    6. Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif  C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie J-C, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge A-M, Maftei C, Care4Rare Canada Consortium, Boycott K, Brais B, Boucher R-M, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. (2015). Joubert syndrome in French Canadians and identification of mutations in CEP104. American Journal of Human Genetics, 97:744-53.
    7. Berryer MH, Chattopadhyaya B, Xing P, Riebe I, Bosoi C, Sanon N, Antoine-Bertrand J, Lévesque M, Avoli M, Hamdan FF, Carmant L, Lamarche-Vane N, Lacaille J-C*, Michaud JL*, Di Cristo G.* (2016). Decrease of Syngap1 in GABAergic cells impairs inhibitory synapse development, synaptic inhibition and cognitive function. Nature Communications, 7:13340 (14 pages). *equal contribution
    8. Srour M, Shimokawa N, Fadi F. Hamdan, Nassif C, Poulin C, Al Gazali L, Rosenfeld JA, Koibuchi N, Rouleau GA, Al Shamsi A, Michaud JL. (2017). Dysfunction of the cerebral glucose transporter SLC45A1 in individuals with intellectual disability and epilepsy. American Journal of Human Genetics, 100:824-830.
    9. Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E*, Minassian BA*, Michaud JL*. 2017). High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. American Journal of Human Genetics, 101:664-685. *equal contribution
    10. Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue M-A, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. (2017). Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in medicine, in press.

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