• Arbour, Laura


    Investigator, BC Children's Hospital
    Professor, Department of Medical Genetics, Faculty of Medicine
    Clinical Geneticist

    Degrees / Designations

    MSc Msc MD

    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Lab Phone
    Sarah McIntosh
    Assistant Phone
    Mailing Address

    Room 220
    3800 Finnerty Rd
    Victoria, BC V8P 5C2

    Research Areas

    Indigenous Health, Genetics, Congenital Heart Disease, Inherited arrhythmia,  Infant Mortality, Birth Outcomes, CPT1A

    Dr. Laura Arbour is a Professor in the Department of Medical Genetics situated  at the UBC Island Medical Program in Victoria, BC.  Her clinical practice and research focuses on northern and aboriginal health issues as they pertain to genetics.   Trained as both pediatrician and clinical geneticist, her research integrates maternal child health issues and the understanding of the genetic component of aboriginal health of all ages, such as congenital heart defects in the Inuit of Nunavut; Long QT Syndrome in Northern British Columbia, and the potential risk of CPT1A P479L for infant mortality in northern populations.  Her research has been funded through the Canadian Institutes for Health Research since 2003. She has published on infant mortality, congenital malformations, and other determinants of adverse birth outcomes in Northern and mainstream populations as well as on inherited arrhythmias in all age groups. 

      Current Projects
      A partnership approach to informing the prevention of infant mortality and childhood respiratory illness in Nunavut: Nunavut leads the country for adverse early child health outcomes, in particular, rates of infant hospitalisations (>300/1000) for respiratory infections and infant mortality rates four times greater than the rest of the country. In our 1999-2008 review of IM cases the leading causes were sudden unexpected death and respiratory infection. We also showed in preliminary studies that Nunavut infants with a gene variant important in the way fat is used for energy (CPT1A P479L) had a fivefold greater risk of sudden death or death due to infection. Paradoxically, we also showed this gene variant is common in Nunavut infants (>60%) suggesting protection historically, perhaps with a diet high in fat but low in sugars. In the context of other contributors to infant mortality, we are exploring the effect of the CPT1A variant on early Inuit health.  We also aim to develop a profile of infants most likely to present with lung infection and determine which infants are at greatest risk for severe decompensation. Based on evidence we will optimize the vaccination protocols locally for a sometimes detrimental virus, RSV, and assess effectiveness of the program. Our partnership with Health and Social Services, Nunavut Tunngavik Inc, Qaujigiartiit Health Research Centre provide a unique opportunity with local input to address these priorities. The over-arching goal is to obtain evidence to determine which modifiable risk factors affect infant health in the most detrimental way. Policy decisions on RSV vaccine, newborn screening and public health prevention strategies are urgently needed and will be informed with these results.

      Long QT Syndrome in Northern British Columbia; Predicting Risk for sudden death:  Inherited Long QT syndrome (LQTS), a potentially fatal condition, is recognized by a prolonged QT interval on electrocardiogram (EGG) corrected for heart rate (QTc). A prolonged QTc increases the risk of serious heart rhythm disturbances which may lead to cardiac arrest. Variants  in numerous genes important in heart rhythm are known to cause LQTS. Usually rare (about 1/2000), LQTS is common (1/125) in First Nations people of Northern BC mainly because of a specific mutation called V205M, dating back several generations. Although many with the V205M mutation clearly have the condition and have died with it, others have lived long lives without event. In LQTS, disease severity varies broadly and risk is difficult to predict. Part of the variability may be explained by non-genetic and also by other minor gene changes, called variants. To date, we have enrolled over 800 Northern BC First Nations participants in our study, and have identified over 100 people with the V205M mutation. We have also identified 2 other variants that likely modify the severity of the condition, and another (ANK2 S646S) that causes LQTS (and other heart diseases) in those without the V205M. We are exploring these effects throughout the life course (from birth to old age) and are also determining  if additional genetic variants alone or in combination with other chronic diseases such as cardiovascular disease, increase the severity resulting in a higher risk of death. The main goal over all, is to determine how risk for LQTS can be identified and reduced.
      Selected Publications

      Leigh Anne Swayne, Nathaniel P. Murphy, Sirisha Asuri, Lena Chen, Sarah McIntosh, Jason Roberts, Chao Wang, Peter J. Lancione, Charles Kerr, Shu Sanatani, Elizabeth Sherwin, Crystal F. Kline, Mingjie Zhang, Peter J. Mohler, Laura T. Arbour. (2017). Anovel variant in the ANK2 membranebinding domain is associated with ankyrin-B syndrome and structural heart disease in a First Nations population with a high rate of long QT syndrome. Circulation Cardiovascular Genetics. 2017;10:e001537. DOI(-): epub ahead of print

      Jamie D. Kapplinger, Sirisha Asuri, Anders Erickson, David J. Tester, Charles R. Kerr, Julie Morrison, Anthony Tang, Shubhayan Sanatani *Laura Arbour, and *Michael J. Ackerman (*co-senior authors). (2017). KCNQ1 p.L353Laffects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Journal of Medical Genetics Feb 2017, jmedgenet-2016-104153; DOI: 10.1136/jmedgenet-2016-104153 -.

      Erickson AC, Ostry A, Chan LHM, and Arbour L. (2016). The reduction of birth weight by fine particulate matter and its modification by maternal and neighbourhood-level factors: a multilevel analysis in British Columbia, Canada. Environmental Health. 15(51): 1-19. http://dx.doi.org/10.1186/s12940-016-0133-0

      Erickson AC, Ostry A, Chan LHM, and Arbour L. (2016). Air pollution, neighbourhood and maternal-level factors modify the effect of smoking on birth weight: a multilevel analysis in British Columbia, Canada. BMC Public Health 16(1): 585.

      Bassil K, Skarsgard E, Yang J, Arbour L, Moineddin R, Brindle M, and Hazell E.(2016). Spatial Variability of Gastroschisis in Canada, 2006-2011: An Exploratory Analysis. Canadian Journal of public health. 103(2):111-118.

      Auger N, Fraser WD, Healy-Profitós J, and Arbour L. (2015). Association between preeclampsia and congenital heart defects.JAMA. 314(15): 1588-1598.

      Arbour L, Asuri S, Whittome B, Polanco F, and Hegele RA. (2015). The Genetics of Cardiovascular Disease in Aboriginal Populations. Canadian Journal of Cardiology. 31: 1094-1115.

      Erickson, A and Arbour L. (2014). The Shared Pathoetiological Effects of Particulate Air Pollution and the Social Environment on Fetal-Placental Development. Journal of Environmental and Public Health. 2014(doi:): 10.1155/2014/901017.

      Jackson H , McIntosh S, Whittome B, Asuri S, Casey B, Kerr C, Tang A, Arbour L. (2014). LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.Clinical Genetics. 86(1): 85-90.

      Collins SA, Surmala P, Osborne G, Greenberg C, Bathory LW, Edmunds-Potvin S, Arbour L. (2012). Causes and risk factors for infant mortality in Nunavut, Canada 1999-2011.BMC pediatrics. 12: 190.


      2017/1 - 2021/12 Principal Applicant (with 57 other researchers), A systems approach for enhancing perinatal care regionalization, Nominated Principal Applicant : KS Joseph Canadian Institutes of Health Research  Total $ 1,000,000

      2013/1 - 2016/12 Co-investigator Cardiac Vascular and Cognitive Dysfunction (CVCD) Alliance Multicentre Project Principal Investigator : Ananda, Sonia (project leader); Friedrich, Matthias (Co-leader); Tu, Jack Canadian Partnership Against Cancer, Canadian Partnership for Tomorrow Total Funding - $16,061,500

      2015/7 - 2016/6 Principal Investigator, Long QT Syndrome in British Columbia: Predicting Risk for Sudden Death Co-investigator: Andrew Krahn; Anthony Tang; Leigh Anne Swayne; Roderick McCormick: Canadian Institutes of Health Research (CIHR), Transitional Operating Grant: 2015-2016 - $100,000

      2012/4 - 2018/3 Principal Investigator, Nutaqqavut (Our Children) Health Information System: A partnership approach to informing the prevention of infant mortality and childhood respiratory illness in Nunavut. Co-applicant : Cheryl Greeenberg; Geraldine Osborne;, A. Sheppard; G. Healey Canadian Institutes of Health Research (CIHR), Partnerships for Health Systems Improvement (PHSI). Total Funding - 349,497 (Canadian dollar)

      2014/10 - 2015/9 Co-investigator, Aboriginal Birth Cohort (ABC) Project, Co-investigator: ANGLIN, Rebecca; BEYENE, Joseph; BRUCE, Sharon Gail, GITTELSOHN, Joel; MCDONALD, Sarah Diana; Principal Investigator: ANAND, Sonia Savitri; TOTH, Ellen Louise; WAHI, Gita, Canadian Institutes of Health Research (CIHR) - $100,000 (Canadian dollar)

      2010/9 - 2015/8, Principal Investigator, Co-investigator: Leigh Field; Roderick McCormick; co-Principal Investigator: Anthony Tang, Canadian Institutes of Health Research (CIHR) $ 645,866.

      Honours & Awards

      2006/7 - 2013/11 Career Investigator - Scholar Award in Population Health - $480,000, Michael Smith Foundation for Health Research

      2006/2 Williams- Thompson Award, Canadian Journal of Gastroenterology

      2004/10 - 2006/9 Institute of Genetics Clinical Investigatorship Award - $240,000 CIH

      2002/10 - 2004/9 Institute of Genetics Clinical Investigatorship Award - $240,000 CIHR

      Research Group Members

      Sarah McIntosh - Research Coordinator and Genetic Counselor
      Sorcha Collins - PhD Candidate
      Malcolm Howard - Medical Student