• Matthews, Allison


    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia
    Genomic Specialist

    Degrees / Designations

    PhD, BSc

    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    604-875-2000 ext. 2443
    Lab Phone
    Mailing Address

    Children's & Women's Health Centre of BC
    Room 2J48
    4500 Oak Street
    Vancouver, BC V6H 3N1

    Affiliate Websites
    Research Areas
    • Clinical Genetic Testing
    • Next Generation Sequencing (NGS)
    • X Chromosome
    • Rare Diseases

    Dr. Matthews is part of a larger, highly collaborative team which combines the expertise of clinicians, bioinformaticians and basic science researchers to help diagnose patients with rare genetics diseases. When conventional analysis is unable to find the cause of a patient's disease, the team uses whole genome and exome sequencing to search for what could be a mistake as small as one letter in the 3 billion letters that make up the genome. As a bioinformation, Dr. Matthews's role is to use computers to help sort through the data and then to apply genetics to prioritize potential causes for each patients. Dr. Matthews has a focus on disease on the X chromosome as well as patients with intellectual disability, metabolic disorders and atypical cerebral palsy.

    Current Projects

    Several project are currently investigating patients with different types of rare diseases including Cerebral Palsy, Ataxia, Intellectual Disability and Epileptic Encephalopathy. We aim to discover the cause of a patient's disease through the use of Next Generation Sequencing (NGS) either in the form of exome or whole genome sequencing (WGS). Larger cohort based studies bring together patients with similar diseases in an effort to indentify new disease genes.

    Selected Publications

    1) Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. Eur J Med Genet. 2017 Aug 1. PMID: 28778789

    2) Zarate YA, Steinraths M, Matthews A, Smith W, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman W, Van Karnebeek C, Wakeling EL, Ma NS. Bone health and SATB2-associated syndrome. Clin Genet. 2017 Aug 8. PMID: 28787087

    3) Tarailo-Graovac M, Zhu JY, Matthews A, van Karnebeek C, Wasserman WW. Assessment of the ExAC dataset for presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders. Genet Med. 2017 May 4. PMID: 28471432

    4) Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CD. Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. Mol Genet Metab. 2017 Apr;120(4):337-341. PMID: 28216384

    5) Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H. Optic atrophy, cataracts, lipodystrophy/lipoatrophy and peripheral neuropathy caused by a de novo OPA3 mutation. Molecular Case Studies. 2016 Oct 28:mcs-a001156. PMID: 28050599

    6) Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD. Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? Mol Genet Metab. 2016 Jan;117(1):42-8. PMID: 26647175

    7) Cotton AM, Price EM, Jones MJ, Balaton BP, Kobor MS, Brown CJ. Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation. Hum Mol Genet. 2015 Mar 15;24(6):1528-39. PMID: 25381334

    8) Cotton AM, Chen C, Lam LL, Wasserman WW, Kobor MS and Brown CJ. Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains. Hum Mol Genet. 2014 Mar 1;23(5):1211-23. PMID: 24158853

    9) Cotton AM, Ge B, Light N, Adoue V, Pastinen T and Brown CJ. Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome. Genome Biol. 2013 Nov 1;14(11):R122. PMID: 24176135 high impact

    10) Jiang J, Jing Y, Cost GJ, Chiang JC, Kolpa HJ, Cotton AM, Carone DM, Carone BR, Shivak DA, Guschin DY, Pearl JR, Rebar EJ, Byron M, Gregory PD, Brown CJ, Urnov FD, Hall LL, Lawrence JB. Translating dosage compensation to trisomy 21. Nature. 2013 Aug 15;500(7462):296-300. PMID: 23863942 highly cited (172 times), high impact


    GenomeBC, GBC-Genomics England Rare Disease partnership, Co-investigator

    National Ataxia Foundation Research Seed Money Grant, Co-investigator
    Honours & Awards

    Child & Family Research Institute Postdoctoral Fellowship

    Interdisciplinary Women’s Research Scholarship

    University of Guelph President’s Scholarship
    Research Group Members