Researcher

    Fadi Hamdan , Ph.D. , M.Sc.

    fadi.hamdan.hsj@ssss.gouv.qc.ca
    Fadi Hamdan
    Research Axis
    Brain and Child Development Axis
    Research Theme
    Neurodevelopmental diseases

    Phone
    514-345-4931 poste 2529

    Title

    • Adjunct research professor; department of pediatrics, faculty of medicine, Université de Montréal (2017)
    • Molecular geneticist; molecular diagnostic lab, CHU Sainte-Justine (2017)

    Education

    • Collège canadien des généticiens médicaux (CCGM, en formation), CHU Sainte-Justine (2020 – 2024).
    • Research associate in neurogenetics, CHU Sainte-Justine Research Centre, Montreal (2006-2017)
    • Postdoctorat : Caractérisation de la signalisation des récepteurs couplés aux protéines G (RCPG) à l'aide du transfert d'énergie par bioluminescence (BRET). Département de biochimie (lab Dr. Michel Bouvier), Université de Montréal (2002-2006).
    • Postdoctorat : Étude de la structure tridimensionnelle des RCPG à l'aide d'approches biochimiques (in situ disulfide cross-linking). National Institute of Diabetes and Kidney Diseases (NIDDK), Laboratory of Bio-organic Chemistry (Dr. Jürgen Wess), National Institutes of Health (NIH; Bethesda, MD, É-U; 2000-2002).
    • PhD : biologie moléculaire et cellulaire, université de McGill (Montréal; 1995-2000).
    • M.Sc. : Immunology. American University of Beirut (1992-1994)

    Research Interests

    My main research interest is to leverage data from exome and genome sequencing to identify new genes whose mutations cause neurodevelopmental diseases, including intellectual disability, epilepsy and autism spectrum disorders. Such findings would translate into molecular diagnostics and help to end the long the diagnostic odyssey of some of the patients suffering of such diseases, as well as allow a better understanding of the molecular mechanisms associated with these genetic disorders.

    Research Topics

    • Genetics of neurodevelopmental diseases.
    • Analyses and interpretation of exome and genome sequencing data.
    • Evaluation of new sequencing technologies and their impact on molecular diagnostics.

    Awards and Distinctions

    Dean’s Honor List (PhD) McGill university (2000)

    Presentations

    • Hamdan  FF,  Al-Mehmadi  S,  Splitt  M;  For  DDD  Study group,  Ramesh  V,  DeBrosse  S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Campeau PM, Minassian BA. The FHF1 epileptic encephalopathy. Annual American Society of Human Genetics meeting. October 2016, Vancouver, Canada.
    • Hamdan FF, Perrault I, Rio M, Capo-Chichi J-M, Boddaert N, Maranda B, Nabbout R, Sylvain, M, Lortie A, Roux P, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, G. Rouleau G, Kaplan J, Michaud JL, Rozet J-M. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Annual American Society of Human Genetics meeting. October 2014, San Diego, CA, USA.

    Publications

    Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. J Med Genet. 2022 Jul 5 (epub ahead of print); PMID: 35790350

    Galosi S, Edani BH, Martinelli S, […], Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2022; 145:208-223. PMID: 34382076

    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021; 62(1):e13-e21. PMID: 33280099

    Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, 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. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med. 2018; 20(7):745-753. PMID: 29261186

    Hamdan FF, Myers CT, Cossette P, […], Minassian BA, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017; 101(5):664-685. PMID: 29100083

    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 JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015; 97(5):744-53. PMID: 26477546

    Hamdan FF, Srour M, Capo-Chichi JM, 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. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014; 10(10):e1004772. PMID: 25356899

    Perrault I*, Hamdan FF*, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Am J Hum Genet. 2014; 94(6):891-7.  PMID: 2481419 (*contributions égales).

    Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet. 2011; 88(3):306-16. PMID: 21376300

    Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S, Dobrzeniecka S, Côté M, Perreau-Linck E, Carmant L, D'Anjou G, Fombonne E, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Mouaffak F, Joober R, Mottron L, Drapeau P, Marineau C, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL; Synapse to Disease Group. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med. 2009; 360(6):599-605. PMID: 19196676

 

Grow Beyond our wildest dreams

With the support of donors like you, at the heart of the Grow Beyond campaign, we are leading healthcare teams towards the opportunities offered by science and new technologies, so that every child, no matter where in Quebec, has access to the unique expertise and know-how of CHU Sainte-Justine. Together, let's join forces for their future.

Grow Beyond with us.

Contact Us

514 345-4931

Légal

© 2006-2014 CHU Sainte-Justine.
All rights reserved.
Terms of Use, Confidentiality, Security

Avertissement

Les informations contenues dans le site « CHU Sainte-Justine » ne doivent pas être utilisées comme un substitut aux conseils d’un médecin dûment qualifié et autorisé ou d’un autre professionnel de la santé. Les informations fournies ici le sont à des fins exclusivement éducatives et informatives.

Consultez votre médecin si vous croyez être malade ou composez le 911 pour toute urgence médicale.

CHU Sainte-Justine