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 Indigenous 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 Indigenous 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. Dr Arbour is also the project lead on a Genome Canada / CIHR funded grant, with co-leads Drs Nadine Caron and Wyeth Wasserman (of UBC), “Silent Genomes: Reducing health-care disparities and improving diagnostic success for indigenous children with genetic disease”. The project aims to address the challenges of equitable access to genetic / genomic diagnosis and care for Canadian Indigenous populations


The multigenerational impact of long QT syndrome: A Gitxsan perspective
Journal of Genetic Counseling
Lee-Anna Huisman and Sheridan Martin and Emma Ewasiuk and Alexa McAdam and K’sana Wood Lynes-Ford and Rod McCormick and Laura Arbour
DOI: 10.1002/jgc4.1927

The Impact of Chronic Disease on the Corrected QT (QTc) Value in Women in a British Columbia First Nations Population
Canadian Journal of Cardiology
Miles Marchand and Anders C. Erickson and Lawrence Gillman and Rachel Haywood and Julie Morrison and Denise Jaworsky and Olivier Drouin and Zachary Laksman and Andrew D. Krahn and Laura Arbour
DOI: 10.1016/j.cjca.2023.10.007

Stillbirth in Canada: anachronistic definition and registration processes impede public health surveillance and clinical care
Canadian Journal of Public Health
K.S. Joseph and Lily Lee and Laura Arbour and Nathalie Auger and Elizabeth K. Darling and Jane Evans and Julian Little and Sarah D. McDonald and Aideen Moore and Phil A. Murphy and Joel G. Ray and Heather Scott and Prakesh Shah and Michiel VanDenHof and Michael S. Kramer
DOI: 10.17269/s41997-021-00483-x

Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women
Journal of Genetic Counseling
Lee-Anna Huisman and Simona Bene Watts and Laura Arbour and Rod McCormick
DOI: 10.1002/jgc4.1255

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family
Molecular Genetics & Genomic Medicine
Matthew Tung and Filip Van Petegem and Samantha Lauson and Ashley Collier and Kathy Hodgkinson and Bridget Fernandez and Sean Connors and Rick Leather and Shubhayan Sanatani and Laura Arbour
DOI: 10.1002/mgg3.1151

The p. P479L variant in CPT1A is associated with infectious disease in a BC First Nation
Paediatrics & Child Health

Maternal proximity to extremely low frequency electromagnetic fields and risk of birth defects
European Journal of Epidemiology

Genomic Research Through an Indigenous Lens: Understanding the Expectations
Annual Review of Genomics and Human Genetics

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication
European Journal of Medical Genetics
Ying Qiao and Hani Bagheri and Flamingo Tang and Chansonette Badduke and Sally Martell and Suzanne M.E. Lewis and Wendy Robinson and Mary B. Connolly and Laura Arbour and Evica Rajcan-Separovic
DOI: 10.1016/j.ejmg.2018.06.010

Severe Maternal Morbidity in Canada: Temporal Trends and Regional Variations, 2003-2016
Journal of Obstetrics and Gynaecology Canada

Pre-pregnancy asthma and the subsequent risk of central nervous system defects in offspring
Birth Defects Research

Early repolarization pattern inheritance in the cardiac arrest survivors with preserved ejection fraction registry (CASPER)
JACC: Clinical Electrophysiology

Primary Biliary Cholangitis in British Columbia First Nations: Clinical features and discovery of novel genetic susceptibility loci
Liver International
Sirisha Asuri and Sarah McIntosh and Valerie Taylor and Andrew Rokeby and James Kelly and Karey Shumansky and Lanora Leigh Field and Eric M. Yoshida and Laura Arbour
DOI: 10.1111/liv.13686

Red blood cell folate levels in Canadian Inuit women of childbearing years: influence of food security, body mass index, smoking, education, and vitamin use
Canadian journal of public health. Revue canadienne de santé publique
DOI: 10.17269/s41997-018-0085-y

Risk of central nervous system defects in offspring of women with and without mental illness
Archives of women's mental health
DOI: 10.1007/s00737-018-0819-0

Pregnancy outcomes of women with spina bifida
Disability and rehabilitation
DOI: 10.1080/09638288.2018.1425920

Canadian Alliance for Healthy Hearts and Minds: First Nations Cohort Study Rationale and Design
Progress in Community Health Partnerships: Research, Education, and Action
DOI: 10.1353/cpr.2018.0006

Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2016.12.009

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest
Circulation: Cardiovascular Genetics
DOI: 10.1161/CIRCGENETICS.116.001686

KCNQ1 p. L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2016-104153

Elevated ambient temperatures and risk of neural tube defects
Occupational & Environmental Medicine
DOI: 10.1136/oemed-2016-103956

Novel Variant in the ANK2 Membrane-Binding 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
DOI: 10.1161/CIRCGENETICS.116.001537

Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result
Journal of genetic counseling
DOI: 10.1007/s10897-016-9991-4

Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates
Archives of Disease in Childhood-Fetal and Neonatal Edition
DOI: 10.1136/archdischild-2016-311199

Human exposure to environmental contaminants and congenital anomalies: a critical review
Critical reviews in toxicology
DOI: 10.1080/10408444.2016.1211090

The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2016.04.004

Pre-eclampsia and risk of infantile haemangioma
British Journal of Dermatology
DOI: 10.1111/bjd.14958

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
DOI: 10.1186/s12889-016-3273-9

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
DOI: 10.1186/s12940-016-0133-0

Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis
Canadian Journal of Public Health
DOI: 10.17269/CJPH.107.5084

Increased corrected QT interval (QTc) in First Nations women of Northern British Columbia with Systemic Lupus Erythematosus (SLE)
International Journal of Clinical Cardiology

Association between preeclampsia and congenital heart defects
DOI: 10.1001/jama.2015.12505

Maternal and community predictors of gastroschisis and congenital diaphragmatic hernia in Canada
Pediatric Surgery International
DOI: 10.1007/s0038

The genetics of cardiovascular disease in Canadian and international aboriginal populations
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2015.07.005

Maternal risk factors for gastroschisis in Canada
Birth Defects Research Part A: Clinical and Molecular Teratology
DOI: 10.1002/bdra.23349

The Shared Pathoetiological Effects of Particulate Air Pollution and the Social Environment on Fetal-Placental Development
Journal of Environmental and Public Health
Anders C. Erickson and Laura Arbour
DOI: 10.1155/2014/901017

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function
Clinical Genetics
DOI: 10.1111/cge.12235

Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member
Journal of Nursing Education and Practice
DOI: 10.5430/jnep.v4n3p225

Capacity Interrupted: The Kloshe Tillicum Graduate Student Training Experience
Canadian Journal of Native Education

Recognizing life-threatening causes of syncope
Cardiology clinics
DOI: 10.1016/j.ccl.2012.10.005

Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2012.11.009

Causes and risk factors for infant mortality in Nunavut, Canada 1999–2011
BMC pediatrics
DOI: 10.1186/1471-2431-12-190

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations
DOI: 10.1542/peds.2011-2924

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.35568

Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.35377

Heavy smoking during pregnancy as a marker for other risk factors of adverse birth outcomes: a population-based study in British Columbia, Canada
BMC Public Health
DOI: 10.1186/1471-2458-12-102

Developing healthy communities: understanding maternal child health determinants in Nunavut
International Journal of Circumpolar Health
DOI: 10.3402/ijch.v72i0.22447

Long QT syndrome
Canadian Medical Association Journal
DOI: 10.1503/cmaj.100138

Exposure to anesthetic gases and congenital anomalies in offspring of female registered nurses
American journal of industrial medicine
DOI: 10.1002/ajim.20875

Congenital anomalies in the offspring of nurses: Association with area of employment during pregnancy
International journal of occupational and environmental health
DOI: 10.1179/107735211799041922

The development of a comprehensive maternal–child health information system for Nunavut-Nutaqqavut (Our Children)
International journal of circumpolar health
DOI: 10.3402/ijch.v70i4.17840

Human health and the ends of the earth
Rural and Remote Health

Rates of hospitalization for lung infection of Inuit infants from the Baffin Region and association with heart defects 2000–2005
Circumpolar Health Supplements

Maternal smoking at first prenatal visit as a marker of risk for adverse pregnancy outcomes in the Qikiqtaaluk (Baffin) Region
Rural and Remote Health

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2010.11.004

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene
Journal of Medical Genetics
DOI: 10.1136/jmg.2009.072983

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut
Molecular genetics and metabolism
DOI: 10.1016/j.ymgme.2010.07.013

Rates of congenital anomalies and other adverse birth outcomes in an offspring cohort of registered nurses from British Columbia, Canada
Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
DOI: 10.1186/1471-2164-10-526

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.33071

The current state of birth outcome and birth defect surveillance in northern regions of the world
International journal of circumpolar health
DOI: 10.3402/ijch.v68i5.17376

Race and ancestry in biomedical research: exploring the challenges
Genome medicine
DOI: 10.1186/gm8

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Molecular Cytogenetics
DOI: 10.1186/1755-8166-1-23

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
Nature Genetics
DOI: 10.1038/ng.243

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact
Genetics in Medicine
DOI: 10.1097/GIM.0b013e31817c6b19

Changes in frequencies of select congenital anomalies since the onset of folic acid fortification in a Canadian birth defect registry
Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Congenital heart defects in Canadian Inuit: is more folic acid making a difference?
Alaska Medicine

Retrospective review of pediatric and adult autoimmune hepatitis in two quaternary care centres in British Columbia: Increased prevalence seen in British Columbia’s First Nations community
Canadian Journal of Gastroenterology and Hepatology
DOI: 10.1155/2007/757906

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
The American Journal of Human Genetics
DOI: 10.1086/507471

Autoimmune liver disease and the Canadian First Nations aboriginal communities of British Columbia’s Pacific Northwest
World Journal of Gastroenterology
DOI: 10.3748/wjg.v12.i23.3625

Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32048-5

Liver disease in the indigenous populations of the Arctic, sub-Arctic, and Pacific Northwest: An approach to investigations in Alaska and British Columbia
British Columbia Medical Journal

DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities
Public Health Genomics
DOI: 10.1159/000092651

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.31015

Recurrent trisomy 21: four cases in three generations
Clinical genetics
DOI: 10.1111/j.1399-0004.2005.00512.x

Prenatally detected trisomy 20 mosaicism
Prenatal diagnosis
DOI: 10.1002/pd.1121

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population
Canadian Journal of Gastroenterology and Hepatology
DOI: 10.1155/2005/203028

The mystery of primary biliary cirrhosis in British Columbia’s First Nations people
International journal of circumpolar health
DOI: 10.3402/ijch.v63i0.17896

Age differences in vitamin A intake among Canadian Inuit
Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique

Heart defects and other malformations in the Inuit in Canada: a baseline study
International journal of circumpolar health
DOI: 10.3402/ijch.v63i3.17720

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
The American Journal of Human Genetics
DOI: 10.1086/378418

Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population
International journal of circumpolar health
DOI: 10.3402/ijch.v61i4.17492

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21
The American Journal of Human Genetics
DOI: 10.1086/342776

Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management
Prenatal diagnosis
DOI: 10.1002/pd.319

Recurrent trisomy 15 in a female carrier of der (15) t (Y; 15)(q12; p13)
American Journal of Medical Genetics Part A
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1173>3.0.CO;2-1

Association of non-syndromic macrocephaly with autism
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.10072

Variable onset of metachromatic leukodystrophy in a Vietnamese family
Pediatric neurology
DOI: 10.1016/S0887-8994(00)00164-8

Indications for Liver Tranplantation in British Columbia’s Aboriginal Population: A 10-Year Retrospective Analysis
Canadian Journal of Gastroenterology and Hepatology
DOI: 10.1155/2000/907463

Penetrance of mutations in the familial Wilms tumor gene FWT1
Journal of the National Cancer Institute
DOI: 10.1093/jnci/92.8.650

Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous
DOI: 10.1002/(SICI)1096-9926(199909)60:33.0.CO;2-#

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
American Journal of Medical Genetics Part A
DOI: 10.1002/(SICI)1096-8628(19990521)84:23.0.CO;2-T

Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively
The Journal of Clinical Endocrinology & Metabolism
DOI: 10.1210/jcem.84.2.5453

Proposed model for interaction between residents and residency training programs, and pharmaceutical industry
Annals (Royal College of Physicians and Surgeons of Canada)

Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1
Human genetics
DOI: 10.1007/PL00008708

An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus
The Journal of Clinical Endocrinology & Metabolism
DOI: 10.1210/jcem.82.4.3904

The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene
DOI: 10.1038/sj.onc.1201107

Multifactorial inheritance of non-syndromic macrocephaly
Clinical genetics
DOI: 10.1111/j.1399-0004.1996.tb02349.x

Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate
The Journal of pediatrics
DOI: 10.1016/S0022-3476(96)70080-X

Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21
Nature genetics
DOI: 10.1038/ng0896-461

Postoperative dystonia in a female patient with homocystinuria
The Journal of pediatrics


Silent Genomes: Reducing health-care disparities and improving diagnostic success for Indigenous children with genetic disease
Silent Genomes is a 4-year, Genome Canada and CIHR funded project with the goal of reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations. The project emphasizes and promotes Indigenous-led governance, community engagement, community education, and student capacity building. It includes an international Indigenous Advisory Board, a cross-country team of clinicians and genetic counselors, local bioinformaticians, clinicians, and scientists with the collective goal of improving access and effectiveness of genetic diagnosis for Indigenous Children. Silent Genomes is partnered with the Assembly of First Nations, the First nations Health Authority, the Métis National Council, and Inuit Tapiriit Kanatami and includes 4 key activities:

-Activity 1: Integrating Indigenous-led governance, community engagement, community education, and student capacity building across all activities
-Activity 2: Precision genomic diagnosis of children with genetic disease
-Activity 3: Development of an Indigenous background variant library
-Activity 4: Economics of precision diagnosis for Indigenous children

The official website for the Silent Genomes project can be found here (https://www.bcchr.ca/silent-genomes-project).

Impact of Long QT Syndrome on First Nations people of Northern British Columbia
Inherited Long QT syndrome (LQTS), a potentially fatal condition, is recognized by a prolonged QT interval on an electrocardiogram (ECG) corrected for heart rate (QTc). To date, the project has enrolled over 800 Northern BC First Nations participants, and has identified over 140 people with the V205M mutation. The project has also identified 2 other variants, one that likely modifies the severity of the condition (KCNQ1 L353L), 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 we are also determining if additional genetic variants alone or in combination with other chronic diseases such as cardiovascular disease, increase the severity and result in a higher risk of death. The main goal overall is to determine how risk for LQTS can be identified and reduced.

First Nations (FN) arm of the Canadian Alliance for Healthy Hearts and Minds
The Gitxsan First Nation is one if the 8 FN communities that make up the First Nations Cohort of the Canadian Alliance for Healthy Hearts and Minds (referred to as the FN Alliance). Dr. Arbour is the site PI for the Gitxsan. The FN Alliance is a sub-cohort of a pan-Canadian, prospective, multi-ethnic research cohort of adults that examines determinants of cancer, dementia, and other chronic diseases (http://cahhm.mcmaster.ca). The established FN sub-cohort (goal: 2000 participants across Canada) from seven communities across Canada (BC to Nova Scotia) have provided health data (Magnetic Resonance Imaging of brain, heart, and abdomen), anthropometrics, dietary, community, lifestyle and other survey collections, as well as blood samples (~700 collected to date) for future research. Future proposed research requires a consultation process with the communities involved.

Infant and Child Health in Nunavut and the Role of the CPT1A P479L Variant
The p.P479L variant of CPT1A is very common in Inuit and coastal BC First Nations populations, with homozygosity rates of approximately 70% and 20%, respectively. Through previous studies, including research done in this laboratory, the variant has been found to be associated with infant death and infectious disease. In order to better understand the population implications of the p.P479L variant we have collected chart information on more than 2800 infants and children residing in Nunavut and linked the information to the P479L genotype.
This study is currently on-going to understand the role of the p.P479L variant on unexpected infant deaths and infant hospitalization for respiratory infection in the context of other contributors. Policy decisions on newborn screening, respiratory syncytial virus (RSV) vaccination, and public health prevention strategies are urgently needed and will be informed by study results.

For a more detailed breakdown of current and past projects, please visit https://www.uvic.ca/medsci/people/ubc/arbourlaura.php


When Rare Becomes Common: The impact of the AnkB p.S646F variant on heart disease in a Northern BC First Nation. CIHR 2020 – 2025 (Arbour, Laura T, Swayne, Leigh Anne)

Be FAIR and CARE: Operationalizing responsible Indigenous data sharing to benefit patients with rare diseases. CIHR 2020 – 2021 (Caron, Nadine R; Arbour, Laura T; Reading, Jeffrey L)

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations. Genome Canada / CIHR 2018 – 2022 (Laura Arbour (Lead), Nadine Caron, Wyeth Wasserman (Co-Leads))

Long QT syndrome in Northern British Columbia: Gene-gene interaction, life course differences, and implications for safe management. CIHR 2017 – 2023 (Laura Arbour)

Honours & Awards

Founders Award for Career Achievement, Canadian College of Medical Genetics. 2022.

Distinguished Achievement for Service to the University and Community, University of British Columbia 2019 Faculty of Medicine Awards.

Research Group Members

Jimena Gonzalez Lema, Research Coordinator and Analyst
Hayley Hubbs, Undergraduate research assistant