- Overview
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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
- Publications
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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
06/2024The 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
01/2024Stillbirth 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
08/2021Understanding 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
08/2020Cardiac 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
04/2020The p. P479L variant in CPT1A is associated with infectious disease in a BC First Nation
Paediatrics & Child Health
05/2019Maternal proximity to extremely low frequency electromagnetic fields and risk of birth defects
European Journal of Epidemiology
04/2019Genomic Research Through an Indigenous Lens: Understanding the Expectations
Annual Review of Genomics and Human Genetics
03/2019Exome 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
02/2019Severe Maternal Morbidity in Canada: Temporal Trends and Regional Variations, 2003-2016
Journal of Obstetrics and Gynaecology Canada
02/2019Pre-pregnancy asthma and the subsequent risk of central nervous system defects in offspring
Birth Defects Research
01/2019Early repolarization pattern inheritance in the cardiac arrest survivors with preserved ejection fraction registry (CASPER)
JACC: Clinical Electrophysiology
08/2018Primary 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
05/2018Red 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
05/2018Risk 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
02/2018Pregnancy outcomes of women with spina bifida
Disability and rehabilitation
DOI: 10.1080/09638288.2018.1425920
01/2018Canadian 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
2018Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2016.12.009
06/2017Genetic Testing in the Evaluation of Unexplained Cardiac Arrest
Circulation: Cardiovascular Genetics
DOI: 10.1161/CIRCGENETICS.116.001686
06/2017KCNQ1 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
03/2017Elevated ambient temperatures and risk of neural tube defects
Occupational & Environmental Medicine
DOI: 10.1136/oemed-2016-103956
02/2017Novel 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
02/2017Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result
Journal of genetic counseling
DOI: 10.1007/s10897-016-9991-4
02/2017Congenital 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
2017Human exposure to environmental contaminants and congenital anomalies: a critical review
Critical reviews in toxicology
DOI: 10.1080/10408444.2016.1211090
2017The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2016.04.004
12/2016Pre-eclampsia and risk of infantile haemangioma
British Journal of Dermatology
DOI: 10.1111/bjd.14958
08/2016Air 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
07/2016The 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
04/2016Spatial variability of gastroschisis in Canada, 2006-2011: An exploratory analysis
Canadian Journal of Public Health
DOI: 10.17269/CJPH.107.5084
2016Increased corrected QT interval (QTc) in First Nations women of Northern British Columbia with Systemic Lupus Erythematosus (SLE)
International Journal of Clinical Cardiology
2016Association between preeclampsia and congenital heart defects
JAMA
DOI: 10.1001/jama.2015.12505
10/2015Maternal and community predictors of gastroschisis and congenital diaphragmatic hernia in Canada
Pediatric Surgery International
DOI: 10.1007/s0038
09/2015The genetics of cardiovascular disease in Canadian and international aboriginal populations
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2015.07.005
09/2015Maternal risk factors for gastroschisis in Canada
Birth Defects Research Part A: Clinical and Molecular Teratology
DOI: 10.1002/bdra.23349
02/2015The 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
2014LQTS 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
2014Inherited 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
2014Capacity Interrupted: The Kloshe Tillicum Graduate Student Training Experience
Canadian Journal of Native Education
2014Recognizing life-threatening causes of syncope
Cardiology clinics
DOI: 10.1016/j.ccl.2012.10.005
02/2013Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist
Canadian Journal of Cardiology
DOI: 10.1016/j.cjca.2012.11.009
01/2013Causes and risk factors for infant mortality in Nunavut, Canada 1999–2011
BMC pediatrics
DOI: 10.1186/1471-2431-12-190
12/2012Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations
Pediatrics
DOI: 10.1542/peds.2011-2924
11/2012Life-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
08/2012Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.35377
05/2012Heavy 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
02/2012Developing healthy communities: understanding maternal child health determinants in Nunavut
International Journal of Circumpolar Health
DOI: 10.3402/ijch.v72i0.22447
2012Long QT syndrome
Canadian Medical Association Journal
DOI: 10.1503/cmaj.100138
08/2011Exposure to anesthetic gases and congenital anomalies in offspring of female registered nurses
American journal of industrial medicine
DOI: 10.1002/ajim.20875
01/2011Congenital anomalies in the offspring of nurses: Association with area of employment during pregnancy
International journal of occupational and environmental health
DOI: 10.1179/107735211799041922
2011The 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
2011Human health and the ends of the earth
Rural and Remote Health
2010Rates of hospitalization for lung infection of Inuit infants from the Baffin Region and association with heart defects 2000–2005
Circumpolar Health Supplements
2010Maternal smoking at first prenatal visit as a marker of risk for adverse pregnancy outcomes in the Qikiqtaaluk (Baffin) Region
Rural and Remote Health
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2010.11.004
2010Constitutional 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
2010Carnitine 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
2010Rates 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
2010Detection 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
11/2009Characterization 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
10/2009The 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
2009Race and ancestry in biomedical research: exploring the challenges
Genome medicine
DOI: 10.1186/gm8
2009Submicroscopic 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
11/2008Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
Nature Genetics
DOI: 10.1038/ng.243
10/2008A 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
07/2008Changes 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
2008Congenital heart defects in Canadian Inuit: is more folic acid making a difference?
Alaska Medicine
2007Retrospective 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
2007Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
The American Journal of Human Genetics
DOI: 10.1086/507471
09/2006Autoimmune 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
06/2006Hereditary 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
2006Liver 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
2006DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities
Public Health Genomics
DOI: 10.1159/000092651
2006Submicroscopic 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
11/2005Recurrent trisomy 21: four cases in three generations
Clinical genetics
DOI: 10.1111/j.1399-0004.2005.00512.x
08/2005Prenatally detected trisomy 20 mosaicism
Prenatal diagnosis
DOI: 10.1002/pd.1121
03/2005Characteristics of primary biliary cirrhosis in British Columbia's First Nations population
Canadian Journal of Gastroenterology and Hepatology
DOI: 10.1155/2005/203028
2005The mystery of primary biliary cirrhosis in British Columbia’s First Nations people
International journal of circumpolar health
DOI: 10.3402/ijch.v63i0.17896
2004Age differences in vitamin A intake among Canadian Inuit
Canadian Journal of Public Health/Revue Canadienne de Sante'e Publique
2004Heart defects and other malformations in the Inuit in Canada: a baseline study
International journal of circumpolar health
DOI: 10.3402/ijch.v63i3.17720
2004Mutations 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
2003Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population
International journal of circumpolar health
DOI: 10.3402/ijch.v61i4.17492
2002The gene for juvenile hyaline fibromatosis maps to chromosome 4q21
The American Journal of Human Genetics
DOI: 10.1086/342776
2002Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management
Prenatal diagnosis
DOI: 10.1002/pd.319
2002Recurrent 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
2001Association of non-syndromic macrocephaly with autism
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.10072
2001Variable onset of metachromatic leukodystrophy in a Vietnamese family
Pediatric neurology
DOI: 10.1016/S0887-8994(00)00164-8
2000Indications 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
2000Penetrance of mutations in the familial Wilms tumor gene FWT1
Journal of the National Cancer Institute
DOI: 10.1093/jnci/92.8.650
2000Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous
Teratology
DOI: 10.1002/(SICI)1096-9926(199909)60:33.0.CO;2-#
1999Genetic 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
1999Discordant 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
1999Proposed model for interaction between residents and residency training programs, and pharmaceutical industry
Annals (Royal College of Physicians and Surgeons of Canada)
1999Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1
Human genetics
DOI: 10.1007/PL00008708
1998An 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
1997The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene
Oncogene
DOI: 10.1038/sj.onc.1201107
1997Multifactorial inheritance of non-syndromic macrocephaly
Clinical genetics
DOI: 10.1111/j.1399-0004.1996.tb02349.x
1996Glutathione 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
1996Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12–q21
Nature genetics
DOI: 10.1038/ng0896-461
1996Postoperative dystonia in a female patient with homocystinuria
The Journal of pediatrics
1988 - Research
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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.phpGrantsWhen 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 & AwardsFounders 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 MembersJimena Gonzalez Lema, Research Coordinator and Analyst
Hayley Hubbs, Undergraduate research assistant
Congratulations CIHR Spring 2023 Project Grant recipients
Congratulations to the BC Children's Hospital Research Institute (BCCHR) and Women’s Health Research Institute (WHRI) investigators and their teams who were awarded funding through the Canadian Institutes of Health Research (CIHR) Spring 2023 Project Grant competition. Our research community received around $8 million in new research grants as principal investigators or co-investigators.
