• Portales-Casamar, Elodie


    Investigator, BC Children’s Hospital
    Clinical Assistant Professor, Department of Pediatrics, University of British Columbia

    Degrees / Designations


    Primary Area of Research
    Evidence to Innovation
    Secondary Area(s) of Research
    (604) 875-2345 ext. 4687
    Lab Phone
    Mailing Address

    BC Children's Hospital Research Institute
    Room V3-321
    950 West 28th Ave
    Vancouver, BC V5Z 4H4

    Affiliate Websites
    Research Areas
    • Clinical Research Informatics
    • Bioinformatics 
    • Genomics 

    My research interests lie at the interface between biology and bioinformatics, building on a PhD in neurosciences followed by 10 years of experience in bioinformatics and genetics. I am particularly interested in understanding how the brain functions and which factors might alter its proper development, through the application of functional genomics data analysis related to neurodevelopmental disorders. All the tools I have participated in developing (Neurocarta, PAZAR,...) are open to the scientific community and the articles describing them published in open-access journals. It is important to me that research results are made available to all as fast as possible. 

    In addition, for the past four years, I have been increasingly involved in clinical research data management and standardization. I believe Clinical Research Informatics is essential to well designed and maintained clinical study. Standardization and harmonization are key to good quality and reusable data collections, which are necessary for the translation of research into improved clinical practices.

    Current Projects

    Integrated Clinical Research Architecture Implementation - Technical Proof-of-Concept

    There is a need for translational research infrastructure that enables interoperability between clinical and research systems, as well as between jurisdictions. We propose to demonstrate the utility and feasibility of a Canadian translational research informatics infrastructure by implementing the informatics Integrating Biology & the Bedside (i2b2) data warehousing framework. As a proof-of-concept, we will focus on two academic health institutions from two provinces (CFRI, BC & WCHRI, AB) and one health domain (diabetes).

    Selected Publications

    For the latest publications, please visit Dr. Portales-Casamar’s ORCID profile.

    1) Longstaff H, Khramova V, Poratles-Casamar E, Illes J (2015) "Sharing with More Caring: Coordinating and Improving the Ethical Governance of Data and Biomaterials Obtained from Children"  PLoS One.10(7):e0130527  PMID: 26132205

    2) Becanovic K, Norremolle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA; REGISTRY Investigators of the European Huntington's Disease Network, Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR (2015) "A SNP in the HTT promoter alters NF-kB binding and is a bidirectional genetic modifier of Huntington disease" Nat Neurosci.18: 807-16 PMID: 25938884

    3) Edgar R, Tan PP, Portales-Casamar E, Pavlidis P (2014) "Meta-analysis of human methylomes reveals stably methylated sequences surrounding CpG islands associated with high gene expression" Epigenetics Chromatin.7:28 PMID: 25493099

    4) de Leeuw CN, Dyka FM, Boye SL, Laprise S, Zhou M, Chou AY, Borretta L, McInerny SC, Banks KG, Portales-Casamar E, Swanson MI, D'Souza CA, Boye SE, Jones SJ, Holt RA, Goldowitz D, Hauswirth WW, Wasserman WW, Simpson EM (2014) "Targeted CNS Delivery using Human MiniPromoters and Demonstrated Compatability with Adeno-Associated Viral Vectors" Mol Ther Methods Clin Dev.1:5 PMID: 24761428

    5) Schmouth JF, Castellarin M, Laprise S, Banks KG, Bonaguro RJ, McInerny SC, Borretta L, Amirabbasi M, Korecki AJ, Portales-Casamar E, Wilson G, Dreolini L, Jones SJ, Wasserman WW, Goldowitz D, Holt RA, Simpson EM (2013) "Non-coding regulatory regions of human brain genes delineated by bacterial artificial chromosone knock-in mice" BMC Biol.11:106 PMID: 24124870 

    6) Portales-Casamar E, Ch Ng C, Lui F, St-Georges N, Zoubarev A, Lai AY, Lee M, Kwok C, Kwok W, Tseng L, Pavlidis P (2013) "Neurocarta: aggregating and sharing disease-gene relations for the neurosciences" BMC genomics.14:129 PMID: 23442263

    7) Yusuf D, Butland SL, Swanson MI, Bolotin E, Ticoll A, Cheung WA, Zhang XY, Dickman CT, Fulton DL, Lim JS, Schnabl JM, Ramos OH, Vasseur-Cognet M, de Leeuw CN, Simpson EM, Ryffel GU, Lam EW, Kist R, Wilson MS, Marco-Ferreres R, Brosens JJ, Beccari LL, Bovolenta P, Benayoun BA, Monteiro LI, Schwenen HD, Grontved L, Wederell E, Mandrup S, Veitia RA, Chakravarthy H, Hoodless PA, Mancarelli MM, Torbett BE, Banham AH, Reddy SP, Cullum RL, Liedtke M, Tschan MP, Vaz M, Rizzino A, Zannini M, Frietze S, Farnham PJ, Eijkelenboom A, Brown PJ, Laperriere D, Leprince D, de Cristofaro T, Prince KL, Putker M, del Peso L, Camenisch G, Wenger RH, Mikula M, Rozendaal M, Mader S, Ostrowski J, Rhodes SJ, Van Rechem C, Boulay G, Olechnowicz SW, Breslin MB, Lan MS, Nanan KK, Wegner M, Hou J, Mullen RD, Colvin SC, Noy PJ, Webb CF, Witek ME, Ferrell S, Daniel JM, Park J, Waldman SA, Peet DJ, Taggart M, Jayaraman PS, Karrich JJ, Blo (2012) "The transcription factor encyclopedia " Genome Biology.13:R24 PMID: 22458515

    8) Portales-Casamar E, Evans A, Wasserman W, Pavlidis P (2011) "The NeuroDevNet Neuroinformatics Core" Seminars in Pediatric Neurology. 18: 17-20 PMID: 21575836

    9) Le Bechec A, Portales-Casamar E, Vetter G, Moes M, Zindy PJ, Saumet A, Arenillas D, Theillet C, Wasserman WW, Lecellier CH, Friederich E (2011) "MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets, to identify sub-network motifs in a meta-regulation network model" BMC Bioinformatics. 12:67 PMID: 21375730 

    Honours & Awards
    Research Group Members