Dr. Laura Arbour (UBC Faculty)

Silent Genomes is a new 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 counsellors, 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 Metis 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.

For more information on the Silent Genomes project, see the attached presentation here.

For a recent article on Silent Genomes featured in UBC Faculty of Medicine's digital magazine 'Pathways', click here.

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). 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 we 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 overall is to determine how risk for LQTS can be identified and reduced.

On June 10th, 2018, Dr Arbour gave a talk titled 'The Genetics of Cardiovascular Disease in Indigenous Populations: From Common to Rare' at the CIHR funded International Symposium on Atherosclerosis. The talk was part of a wider session titled 'From Molecules to Communities - The Complexities of Indigenous Heart and Brain Health' - pictured below. 

Current funding: CIHR

1) “Long QT syndrome in Northern British Columbia: Gene-gene interaction, life course differences, and implications for safe management”

Principal investigator: Dr. Laura Arbour
Co-investigators: Rod McCormick, Shu Sanatani, Andrew Krahn, Dan Metzger, Sylvia Stockler

2) “Understanding the population, individual, and cellular effects of a novel ANK2 mutation associated with Long QT syndrome and structural heart disease in a First nations Community of Northern British Columbia”

Principle investigator: Drs Laura Arbour and Leigh Anne Swayne

Co-investigators: Andrew Krahn, Peter Mohler, Jason Roberts, Shu Sanatani.

Previous funding: CIHR

Additional information

• Recruitment letter
• LQTS Update Letter (Feb 2018)
• LQTS update letter (May 2014)
• Genetics pamphlet
• LQTS community support services
• LQTS: What it means for you and your family
• LQTS: A Family's Perspective - Part 1: A Story
• LQTS: A Family's Perspective - Part 2: Testimonials
• LQTS: Information pamphlet about Long QT syndrome in Northern BC
• List of Drugs to be Avoided by Patients with Congenital Long QT Syndrome (LQTS) - current as of Feb 2017

Publications

Kapplinger JD, Erickson A, Asuri S, Tester DJ, McIntosh S, Kerr CR, Morrison J, Tang A, Sanatani S, *Arbour L, *Ackerman MJ (*co-senior authors). (2017). KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. J Med Genet. 54(6):390-398.

Swayne LA, Murphy NP, Asuri S, Chen L, Xu X, McIntosh S, Wang C, Lancione PJ, Roberts JD, Kerr C, Sanatani S, Sherwin E, Kline CF, Zhang M, Mohler PJ, Arbour LT. (2017). 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. Circ Cardiovasc Genet. 10(1). pii:e001537.

Munday FA, Asuri S, McIntosh S, Jackson H, Tang A, and Arbour L. (2016). Increased corrected QT interval (QTc) in First Nations women of Northern British Columbia with Systemic Lupus Erythematosus (SLE). International Journal of Clinical Cardiology. 3(1): 3:072.

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.

Jackson H, Huisman LA, Sanatani S, Arbour LT. (2011). Long QT syndrome. CMAJ : Canadian Medical Association Journal. 183(11): 1272-5.

Arbour L, Rezazadeh S, Eldstrom J, Weget-Simms G, Rupps R, Dyer Z, Tibbits G, Accili E, Casey B, Kmetic A, Sanatani S, Fedida D. (2008). 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 10(7): 545-550, 2008.

Other Cardiogenetics Publications

Janzen ML, Cheung C, Sanatani S, Cunningham T, Kerr C, Steinberg C, Sherwin E, Arbour L, Deyell MW, Andrade JG, Lehman AM, Gula LJ, Krahn AD. (2017). Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation. Can J Cardiol. 33(6):814-821.

Mellor G, Laksman ZWM, Tadros R, Roberts JD, Gerull B, Simpson CS, Klein GJ, Champagne J, Talajic M, Gardner M, Steinberg C, Arbour L, Birnie DH, Angaran P, Leather R, Sanatani S, Chauhan VS, Seifer C, Healey JS, Krahn AD. (2017). Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry). Circ Cardiovasc Genet. 10(3). pii: e001686. doi: 10.1161/CIRCGENETICS.116.001686. PubMed PMID: 28600387.

Predham S, Hathaway J, Hulait G, Arbour L, Lehman A. (2016). Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result. J Genet Couns. 26(1):150-158.

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.

Janzen M, Sanatani S, Gibbs KA, Mohammed SS, Hathaway J, Arbour L, and Krahn AD. (2014). Inherited heart rhythm disorders: Diagnostic dilemmas after the sudden death of a young family member. Journal of Nursing Education and Practice. 4(3): 225.

Krahn AD, Sanatani S, Gardner MJ, Arbour L. (2013). Inherited heart rhythm disease: negotiating the minefield for the practicing cardiologist. The Canadian journal of cardiology. 29(1): 122-25.

Khoo C, Chakrabarti S, Arbour L, Krahn AD. (2013). Recognizing life-threatening causes of syncope. Cardiology clinics. 31(1): 51-66.

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). 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 each community involved.

Local Principal Investigator: L. Arbour
National leads: S. Anand, JV Tu, and MG Friedrich
Project funded by: Canadian Partners Against Cancer and The Heart and Stroke Foundation.
Research coordinator for Gitxsan cohort: Sarah McIntosh (Sarahmc@uvic.ca)

Publications

Anand S, Abonyi S, Arbour L, Brook J, Bruce S, Castleden H, Desai D, de Souza RJ, Harris S, Irvine J, Lai C, Lewis D, Oster RT, Poirier P, Toth EL, Bannon K, Chrisjohn V, Davis AD, L’Hommecourt J, Littlechild R, McMullin K, McIntosh S, Morrison J, Picard M, Pictou Landing First Nation, Thomas MM, Tusevljak N, Friedrich MG, and Tu JV. (2017). Canadian Alliance for Healthy hearts and Minds (CAHHM) – First nations Cohort Study Rationale and Design. [ACCEPTED, Progress in Community Health Partnerships: Research, Education, and Action]

Since its discovery in 2001, the p.P479L variant of carnitine palmitoyltransferase 1A (CPT1A) has been the centre of controversy regarding its clinical significance. CPT1A is an enzyme needed to use long chain fats for energy during fasting or prolonged exercise. Classical CPT1A deficiency is a rare autosomal recessive disorder, which includes symptoms of hypoketotic hypoglycaemia, hepatic encephalopathy, seizures, and sudden unexpected death in infancy.

The p.P479L variant of CPT1A is very common in Inuit and coastal BC First Nations populations, with homozygosity rates of approx 70% and 20%, respectively. Many Inuit and BC First Nations infants and children, homozygous for the variant, have presented with symptoms of CPT1A deficiency or with sudden death. In order to better understand the population implications of the p.P479L variant in the North, we determined that the variant was prevalent in the Inuit of Nunavut and the Inuvialuit of NWT. We also found that the variant was associated with unexpected infant death (SIDS, SUDI and death due to infection) in Nunavut. Other studies in Nunavut, Alaska and BC have also suggested a possible connection of the P479L variant with low blood sugar, seizures, hospitalization for respiratory infection and ear infection.

The variant is of particular concern in Nunavut, which has the largest Inuit population in Canada. Nunavut leads the country for a number of adverse early child health outcomes, in particular infant hospitalizations for respiratory infection (~306/1000), which is amongst the highest in the world. Nunavut also leads the country in infant mortality, which is three times the national average (21.5 vs 4.5/1,000 live births).

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.

Principal Investigator: L Arbour

Study Partners: Government of Nunavut Department of Health, Nunavut Tunngavik Inc, and the Qaujigiartiit Health Research Centre

Co-investigators: C. Greenberg, A. Sheppard, G. Healey Project funded by: CIHR, Department of Health, Nunavut

Previous funding: CIHR Circumpolar team grant on prevention of chronic disease

Principal Investigator Kue Young

Co-Principal Investigator L. Arbour

For more information on this project, please contact Sorcha Collins (PhD Candidate and Project Lead) at scollins@uvic.ca

Publications

Sinclair GB, Collins S, Popescu O, McFadden D, Arbour L, Vallance HD. (2012) Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations. Pediatrics 130(5):e1162-9. Epub.

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 Pediatr 12:190.

Collins SA, Sinclair G, McIntosh S, Bamforth F, Sobol I, Osbourne G, Corriveau A, Santos M, Hanley B, Greenberg CR, Vallance H, Arbour L. (2010) Carnitine Palmitoyltransferase I P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. Molecular Genetics and Metabolism. 101(2-3):200-4. Epub.

Presentations

Collins S, Sinclair G, Osborne G, Corriveau A, Santos M, Hanley B, Bamforth F, Greenberg C, Vallance H, Arbour L. (2011). Is the CPT1A p.P479L variant a risk in unexpected infant mortality cases of Nunavut, NWT and Yukon? 12th International Congress of Human Genetics/61st Annual Meeting of the American Society of Human Genetics. October 13, 2011. Montreal QC.

Special Satellite Meeting to the ACMG Clinical Genetics Conference. (2011). Screening for Carnitine-Palmitoyltransferase, Type 1A (CPT1A) in First Nations Populations: A Community Conversation. March 16, 2011. Vancouver BC.

Collins SA, Osborne G, Arbour L. (2011). Understanding Infant Mortality in Nunavut (1999-2008). 4th International Meeting on Indigenous Child Health. March 6 2011. Vancouver BC.

Collins SA, Sinclair G, Vallance HD, Greenberg CR, Sobol I, Corriveau A, Hanley B, Osborne G, Young TK, Arbour L. (2011). The CPT1 p.P479L Allele in Northern Canadian Populations: Does it Confer Risk for Infant Mortality? 59th Annual Meeting of the American Society of Human Genetics, October 23 2009. Honolulu, Hawaii.

Collins S, Sinclair G, Vallance H, Greenberg CR, Arbour L. (2009). CPT1 P479L Prevalence in Live Newborns and Sudden Death Cases in Yukon, NWT and Nunavut. International Conference on Circumpolar Health (ICCH), July 12 2009. Yellowknife NWT,

Collins S, Sinclair G, Vallance H, Arbour L. (2009). CPT1 P479L in Canada’s North: Should we be carrying out newborn screening? Canadian Public Health Agency (CPHA) 2009 Annual Conference. June 10 2009. Winnipeg MB.

Previously known as Primary Biliary Cirrhosis, Primary Biliary Cholangitis (PBC) is the most common reason for liver transplant referrals among the First Nations People of British Columbia. PBC is a rare chronic, progressive liver disease with a presumed autoimmune basis. It can cause symptoms such as chronic fatigue and itching, and often leads to liver failure. PBC generally strikes women between the ages of 40-60 and there is currently no cure. Both environmental and genetic factors are believed to play a role in the development of PBC.

We have studied PBC in British Columbia's Coastal First Nations people, who have an 8 times higher referral rate for liver transplantation for PBC than non-First Nations, although they represent only 4% of the over-all BC populations. Within this population, we also investigated a connection with inflammatory arthritis and other autoimmune conditions. Our goal was to identify specific genetic factors by carrying out genetic linkage of affected families and individuals in BC Coastal First Nations people that predispose to PBC development. A genetic linkage study is currently being published.

Principal investigator: Dr. Laura Arbour
Co-investigators: Drs. Leigh Field, Eric Yoshida
Project previously funded by: Canadian Liver Foundation
Additional/student funding was provided by: Kloshe Tillicum Network Environments for Aboriginal Health Research and BC Clinical Genomics Network

This project is no longer active. If you, or one of your family members, have a diagnosis of PBC and would like more information regarding this research, please contact our Research Coordinator, Sarah McIntosh, at 1-888-853-8924 or sarahmc@uvic.ca.

Additional Information

• Final PBC update letter
• PBC brochure
• PBC information sheet

Media

• UBC Medicine Magazine Spring 2010 Vol 6 No.1 page 12
• CLF Livewell newsletter article

Publications

Ko HH, Chung H, McMahon B, Hurlburt K, Arbour L, Yoshida E. (2006). Liver disease in the indigenous communities of the arctic, sub-arctic and pacific northwest: an approach to investigations of Alaska Natives and the First Nations of British Columbia. BC Medical Journal 48(5):216-221.

Arbour L, Cook D. (2006). DNA on loan: issues to consider when carrying out genetic research with Canadian Aboriginal populations. Community Genet 9(3):153-160.

Yoshida EM, Riley M, Arbour LT. (2006). Autoimmune liver disease and the Canadian First Nations Aboriginal communities of British Columbia's Pacific Northwest[LG4] . World J Gastroenterol 12(23):3625-3627.

Arbour L, Rupps R, Field L, Ross P, Erikson A, Henderson H, Hill W, Yoshida E. (2005). Characteristics of primary biliary cirrhosis in British Columbia's First Nations people[LG5] . Can J Gastroenterol (5):305-310.

Arbour L, Field L, Erikson A, Yoshida E. (2003). The mystery of primary biliary cirrhosis in British Columbia's First Nations people[LG6] . Int J Circumpolar Health 63(Suppl 2):185-188.

Yoshida EM, Caron NR, Buczkowski AK, Arbour LT, Scudamore CH, Steinbrecher UP, Erb SR, Chung SW. (2000). Indications for liver transplantation in British Columbia's Aboriginal population: a ten year retrospective analysis. Canadian Journal of Gastroenterology 14(9):775-779.

A Spatial Analysis of Adverse Birth Outcomes in Western Canada

Exposure to contaminants during pregnancy has been associated with certain adverse birth outcomes that require further investigation. The project builds on work carried out by our team mapping community-level relative risks of adverse birth outcomes in BC in relation to environmental contaminants. Geographical information systems (GIS) have become a powerful tool in epidemiologic and public health research; mapping potential sources of exposure along with birth outcome data creates opportunities to investigate environmental health relationships that can act as an exploratory step to identify 'hotspot' areas suitable for more rigorous investigations.

Funder: CIHR

Principal Investigator: L. Arbour
Co-investigators: L. Chan (UNBC), S. Venners (SFU)

Anders Erickson, PhD student: (completed July 2016).

Publications:

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.

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.

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.

Erickson AC, Arbour LT. (2012). 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. 12: 102.

If you'd like to learn more about this project, please contact Dr. Laura Arbour at larbour@uvic.ca.

Looking to the Future: Early Inuit Health

Our objective was to utilize the data from the Aboriginal Children Survey 2006 to understand early Inuit health in Canada.

Survey results from the four Inuit regions and Inuit living outside the regions were analyzed in this one year project funded through Health Canada that aims to provide insights on prevention of Sudden Infant Death Syndrome, breast feeding practices, chronic diseases and access to health care.

Principal investigator: Dr. Laura Arbour
Project previously funded by: Health Canada
Project lead: Sirisha Asuri PhD

This project is no longer active. If you have questions please contact Dr. L. Arbour (larbour@uvic.ca)

Reports:

Asuri S and Arbour L. (2010). Looking to the Future: Report on determinants of Breastfeeding in the Inuit Regions of Canada. 12. Health Canada and ITK (Posted on ITK website).

Asuri S, Arbour L. (2010). Looking to the Future: Report on prevention of SIDS in Inuit regions. 15. Health Canada and ITK (Posted on ITK website).

Birth Outcomes in Nunavut

Chart reviews and Canadian-wide jurisdictional comparisons have confirmed that the over-all congenital anomaly rate is increased in Nunavut. This increase is largely secondary to heart defects, especially septal, which were 3-4 times higher than expected in reviews from 1989-1994 and 2000-2006. Genetic, nutritional, environmental and social determinants have been implicated and continue to be under study.

If you would like to know more, please contact Dr. Laura Arbour at larbour@uvic.ca.

Publications:

Arbour L, Rupps R, MacDonald S, Forth M, Yang, J, Nowdluk M., Osborne, G. (2007). Congenital Heart Defects in Canadian Inuit: Is More Folic Acid Making a Difference? Alaska Medicine, 49(2) 163-166.

Arbour L, Gilpin C, Millor-Roy V, Pekeles G, Egeland GM, Hodgins S, Eydoux P. (2004). Heart defects and other malformations in the Inuit of Canada: a baseline study. Int J Circumpolar Health 63(3):251-266.

Presentations:

Arbour L, Vaktskjold A. (2010). A review of the Current State of Circumpolar Perinatal Outcomes and Birth Defect Surveillance. Copenhagen, Denmark: Navigating a Northern Focus on Birth Outcome Surveillance and Research: The First International Symposium, May 2010.

Sy C., Cowan J, Sobol I, Osborne G, Arbour L. (2009). Chart Review Analysis of Maternal Factors and Major Malformations on Baffin Island 2000-2005. Yellowknife, NWT, International Congress of Circumpolar Health 14, July 2009.

Orlaw C, Rouleau J, Hanley B, Corriveau, A, Sobol I, Arbour L. (2009). Congenital Anomalies in Canada's Northern Territories. Yellowknife, NWT: International Congress of Circumpolar Health 14, July 2009.

Cowan J, Osborne G, Sobol I, Arbour L. (2008). Then and Now: Have the rates of birth defects in infants of Inuit mothers of the Eastern Arctic changed since the onset of mandatory folic acid fortification in Canada? Tromso Norway: INCHR symposium, May 2008

Arbour L, Osborne G, Rupps R, Forth M, Nowdlak M, Egeland G, Field L, Rozen R. (2007). Genetic and Nutrient Determinants of Congenital Heart Defects in Nunavut. ASHG, San Diego, California, October 2007.

Other publications on Birth Outcomes in the North:

Mehaffey K, Higginson A, Cowan J, Osborne GM, Arbour LT. (2010). Maternal smoking at first prenatal visit as a marker of risk for adverse pregnancy outcomes in the Qikiqtaaluk (Baffin) Region. Rural and remote health. 10(3): 1484.

Arbour L, Melnikov V, McIntosh S, Olsen B, Osborne G, Vaktskjold A. (2009). The Current State of Birth Outcome and Birth Defect Surveillance in Northern Regions of the World. Int J Circumpolar Health 68(5):443-58.

Other publications on Congenital Anomalies:

Auger N, Quach C, Healy-Profitós J, Lowe AM, Arbour L, (2017). Congenital microcephaly in Quebec: baseline prevalence, risk factors and outcomes in a large cohort of neonates. Arch Dis Child Fetal Neonatal Ed. 2017 Jul 4. pii: fetalneonatal-2016-311199. doi: 10.1136/archdischild-2016-311199. [Epub ahead of print] PubMed PMID: 28676560.

Auger N, Fraser WD, Arbour L, Bilodeau-Bertrand M, Kosatsky T. (2017). Elevated ambient temperatures and risk of neural tube defects. Occup Environ Med. 74(5):315-320.

Foster WG, Evans JA, Little J, Arbour L, Moore A, Sauve R, León JA, Luo W. (2016) Human exposure to environmental contaminants and congenital anomalies: a critical review. Critical Reviews in Toxicology. 47(1), pp.59-84.

Auger N, Fraser W, Arbour L, Healy-Profitós J, Drolet B. (2016). Preeclampsia and risk of infantile hemangioma. British Journal of Dermatology. 176(2), pp.371-377.

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.

Skarsgard ED, Meaney C, Bassil K, Brindle M, Arbour L, Moineddin R, and Canadian Pediat Surg Network. (2015). Maternal Risk Factors for Gastroschisis in Canada. Birth Defects Research Part A-Clinical and Molecular Teratology. 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.

Shariff F, Peters P, Arbour L, Greenwood M, Skarsgard E, and Brindle M. (2015). Maternal and community predictors of gastroschisis and congenital diaphragmatic hernia in Canada. Pediatric Surgery International. 3(11): 1055-60.

Teschke K, Abanto Z, Arbour L, Beking K, Chow Y, Gallagher RP, Jong B, Le ND, Ratner PA, Spinelli JJ, Dimich-Ward H. (2011). Exposure to anesthetic gases and congenital anomalies in offspring of female registered nurses. American journal of industrial medicine. 54(2): 118-27.

Dimich-Ward H, Le Nhu D, Beking K, Dybuncio A, Spinelli JJ, Gallagher RP, Ratner PA, Arbour L, Teschke K. (2011). Congenital anomalies in the offspring of nurses: association with area of employment during pregnancy. International journal of occupational and environmental health. 17(3): 195-201.

Arbour LT, Beking K, Le ND, Ratner PA, Spinelli JJ, Teschke K, Gallagher RP, Abanto ZU, Dimich-Ward H. (2010). 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. 101(3): 230-4.

Godwin KA, Sibbald B, Bedard T, Kuzeljevic B, Lowry RB, Arbour L. (2008). 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 santé publique. 99(4): 271-5.

Nutaqqavut "Our Children" Health Information System 

Since Nunavut became a territory, there has been an increasing need to establish its own territorial maternal and child health data collection system. Although some prenatal and postnatal information is currently collected, there is no existing comprehensive system, which can bring all of this data together into one cohesive database. 

Previous independent research studies have shown that Nunavut has increased infant mortality, birth defects (specifically heart defects), paediatric rickets and hearing loss compared to the rest of Canada. 

In order to effectively prevent these issues, the Department of Health & Social Services in collaboration with Dr. Laura Arbour, developed the Nutaqqavut Health Information System (NHIS). This project was initially funded by a team grant for Circumpolar Health through CIHR and was developed in partnership with NHIS was built with the intent to supply Nunavut with public health information to plan for health services to focus future action plans on prevention and treatment and to provide an opportunity to investigate trends, evaluate causes of specific pregnancy outcomes and analyze risk factors in mothers and children. After extensive consultations, a revised Prenatal Record, new Nunavut Well-Baby Records (adapted from the Rourke Well-Baby Record) and a Birth Defect Report form for the territory was introduced. 

Irina Manokhina, MD, PhD

Scientific Project Manager - Silent Gemones Project
imanokhina@uvic.ca
Tel: 250-472-5655

Irina Manokhina is an MD and PhD scientist with fifteen years of experience in clinical and molecular genetics. She has been involved in the development of diagnostic tools for inherited conditions for the entirety of her career. Her PhD research was focused on the area of cancer genetics, and was followed by six wonderful years as a postdoctoral fellow at the University of British Columbia at the BC Children’s Hospital Research Institute (BCCHRI). She has been the recipient of many research awards including the Presidential Scholarship (Russia), Mining for Miracles Postdoctoral Fellowship (BCCHRI), and Clinical and Translational Seed Grants (BCCHRI). Her current role is working as the Scientific Project Manager on the Silent Genomes project. Her primary areas of teaching are foundations of medicine, introduction to biomedical research, laboratory diagnostics, and bioethics. She enjoys drawing, travelling, and winter sports.

Sorcha Collins, MSc

Project Manager
scollins@uvic.ca
Tel: 250-853-3661

Sorcha Collins completed her MSc in Genetics at UBC in 2010 under the supervision of Dr. Arbour. Her graduate research assessed the causes and risk factors for infant mortality in Nunavut and whether the CPT1A p.P479L genetic variant increases risk for infant mortality in the Inuit of Nunavut and Inuvialuit of NWT. Since graduation, Sorcha has continued working with Dr. Arbour as project manager for the Nutaqqavut 'Our Children' Health Information System and Understanding and Preventing Infant Mortality in Nunavut research projects.

Sorcha’s research interests include genetics, epidemiology, maternal and child health and northern health.

Sarah completed her MSc in Genetic Counselling at the University of British Columbia in 2000. She began her career working in hospital-based genetics clinics in New Zealand, Vancouver and Victoria. She gradually transitioned into the research setting over the years, and joined the Community Genetics Research Program in 2006.

She is involved in multiple community genetics research projects, including "Primary Biliary Cirrhosis in the First Nations People of BC", "The Impact of Long QT Syndrome on First Nations people of Northern British Columbia: A Community Based Research Program", the Northern BC First Nations cohort of the “Canadian Alliance Study for Healthy Hearts and Minds”, and "Silent Genomes".

Sarah grew up in the small coastal community of Ucluelet on Vancouver Island, and finds it rewarding to collaborate with other small BC First Nations communities to tackle important research questions related to health and genetics.

Brittany Morgan, BSc

Community Engagement Coordinator
bamorgan@uvic.ca
Tel: 250-472-5538

Brittany Morgan completed her BSc in Microbiology at the University of Victoria in 2015 and is currently completing her Masters in Public Health at UVIC with an Indigenous Peoples’ Health focus area. Her previous volunteer and work experience were centered within Indigenous run organizations and non-profits. She has joined the Community Genetic Research Program as one of the Community Engagement Coordinators for the "Silent Genomes" Project.

Brittany is Nuu-chah-nulth and Secwepemc, but grew up in a small community on the West Coast of Vancouver Island. Her research interests include Indigenous Peoples’ health and governance, community-based approaches, social determinants of health, and health equity.

Laurie Kariiosta Montour, BSc, BA

I am an Indigenous biologist working for indigenous communities. My work has to be pragmatic; it has to withstand tough questions about the purpose of research, its benefits and costs.  It has to take into account community life and cultural practices, family relations and politics. I was born and raised in the Mohawk Territory of Kahnawake. Any time I enter a Native community, in some way, it’s like coming home again. I enter humbly, with wonder at how each place has created its own sense of community, and amazed at the resilience and strength it takes to heal and move forward.

The Silent Genomes Project is truly looking seven generations ahead to protect our unborn, while building tools and human capacity to take care of the gift transferred to us by our ancestors.  The challenge is to stay grounded, and to make sure this project is done properly so at the end of the day, our people have equitable access to the best health care.

Ashleigh Hansen, MSc

Genetic Counselor
hansena@uvic.ca
Tel: 250-472-4650

Ashleigh Hansen obtained her BSc in Microbiology at the University of Victoria. She completed her MSc in Genetic Counselling as part of the inaugural class at the University of Manitoba in 2019. Her Master’s thesis focused on exploring immigrants’ perceptions and experiences with genetic counselling services using a qualitative approach. Ashleigh began working as a genetic counsellor and research coordinator in the Community Genetics Research Program shortly after graduation. She is mainly involved in the community based research study "The Impact of Long QT Syndrome on First Nations people of Northern British Columbia: A Community Based Research Program”. Her primary research interest focuses on increasing access to genetic counselling services for diverse and underrepresented populations.

Lawrence Gillman, MPH

Lawrence completed his Masters of Public Health at the University of Edinburgh in 2017, and began working as a research assistant under Dr. Arbour that year. He is involved in multiple projects with the Community Genetics Research Program, and helps with literature reviews, database management, grant and publication preparation, and administration. His research interests include genetics, epidemiology, research ethics, and health promotion.

Clinical Trainees

Cindy Orlaw, MD, 2009
Directed Study
“Congenital Anomalies in Canada's Northern Territories”

Candice Sy, Family Practice Resident
UBC, 2008-2009
“Maternal Factors and Major Malformations on Baffin Island 2000-2005”

Olivia Fleming, Medical Student
University College Dublin, 2013-Ongoing
“Obstetrical outcomes in First Nations Women with the KCNQ1 V205M mutation.”

Kait Duncan, Medical Student
UBC, 2009-2013
“Factors influencing Red blood cell folate levels of Canadian Inuit women of child-bearing years: Results from 2007-2008 Inuit Health Survey.”

Michelle Demos, MD Clinical Fellow, Genetics
UBC, 2005-2008
“The Genetic analysis of Benign familial Epilepsy in BC FNs”

 Sarah Peters, Medical Student
UBC, 2009-2011
“Rates of Hospitalization for Lung Infection of Inuit Infants from the Baffin Region and Association with Heart Defects 2000-2004”

Rachel Haywood, Medical Student
Saba University Medical School, 2014
“Evaluation of the Impact of QT-prolonging Drugs on the QTc”

Ariana Watts, Medical Student
UBC, 2008-2009
“Arthritis and PBC”

PhD

Sorcha Collins
UBC, 2012-Ongoing
“CPT1A P479L and risk for sudden death, respiratory and other infection in infants of Nunavut”

Anders Erickson

UVic, 2010-2016
“The Interaction between the Social and Physical Environment on Adverse Birth Outcomes in British Columbia”

MSc

Simona Bene Watts
Master’s Thesis, UVic, 2019-Ongoing
“The Impact of LQT Syndrome in First Nations Youth [Working Title]”

Catherine Choi
Master’s Thesis, UVic, 2017-2018
“The role of ANK2 in the brain and heart”

Lena Chen
Master’s Thesis, UVic, 2015-Ongoing
“Exploring the cellular mechanisms of the ANK2 S646F mutation and its role in heart disease”

Pamela Dheri
Master’s Thesis, UVic, 2015-2016
“Duty to warn and cardiogenetics: What are the responsibilities of the family and the physician to warn of risk for sudden death”

Fernando Polanco
Master’s Thesis, UVic, 2010-2012
“Type II Diabetes and the V205M KCNQ1 mutation in First Nations People of Northern British Columbia”

Sorcha Collins
Master’s Thesis, UBC, 2007-2010
“Prevalence of the carnitine palmitoyltransferase 1A (CPT1A) variant p.P479L and risk of infant mortality in Nunavut, Northwest Terrtiories, and Yukon”

Lee-Anna Huisman
Master’s Thesis, UBC, 2006-2010
“Living with LQTS, The psychological impact of LQTS in the Gitxsan Project Description: The impact of Long QT in the Gitxsan”

Bachelors

Michelle Morello
Honours, 2017-2018
“Congenital Anomalies in Nunavut: Trends and Current Status"

Jeremy Christensen
Honours, 2013-2014
“The Role of a Novel Ankyrin 2 Mutation in Long QT Syndrome in a BC First Nations Community”

Barbara Gauthier
Honours, 2012-2013
“Impact of the KCNQ1 V205M mutation in children from a Northern BC First Nations Community”

Andrew Rokeby
Directed Studies 2011
“The clinical features of Primary Biliary Cirrhosis in the First Nations of British Columbia”

Fritha Munday
Honours 2010-2011
“Lupus and Long QT Syndrome”

Valerie Taylor
Directed Studies 2010
“The genetic basis of Primary biliary cirrhosis in the First Nations of BC”