Dr. Laura Arbour (UBC Faculty)

Dr. Laura Arbour (UBC Faculty)
Contact
Office: Medical Sciences Building, room 104

Dr. Arbour is a Professor in the Department of Medical Genetics at UBC and an Affiliate Professor in the Division of Medical Sciences at the University of Victoria.

Her clinical practice and research focuses on northern and Indigenous health issues as they pertain to genetics. Trained as both pediatrician and clinical geneticist (McGill University), her work as a clinician investigator integrates maternal-child health issues and the understanding of the genetic component to Aboriginal health of all ages.

Dr. Arbour is currently also the clinical lead for Medical Genetics in the Department of Laboratory Medicine for the Vancouver Island Health Authority.

I am pleased to have had the opportunity to develop our community directed research program as a faculty member with the Division of Medical Sciences at the University of Victoria since 2006.

Our research focuses on the health of Northern and Aboriginal populations while integrating the concepts of the CIHR Guidelines for health research involving Aboriginal People. Please see DNA on loan: issues to consider when carrying out genetic research with Canadian Aboriginal populations and Global Indigenous health research symposium report papers and presentations: Directions and themes in international Indigenous health research 2008 for more information.

The work of our team has three main themes:

  1. exploring the genetic causes and understanding the clinical presentation of genetic conditions (Long QT Syndrome and Primary Biliary Cirrhosis, PBC) prevalent in BC First Nations;
  2. exploring the biological, nutritional and social determinants of early Inuit health;
  3. documenting and understanding the effects of the environment and other determinants on birth outcomes in BC, Yukon, Nunavut and the circumpolar world.

There is a disproportionately high rate of Long QT Syndrome in the First Nations of Northern BC. Our primary goals have been to define the genetic basis, and understand the clinical phenotype in partnership with the community. Lee-Anna Huisman, a graduate student with our program, also set out to explore the impact of living with the condition on a daily basis.

Primary biliary cirrhosis, an autoimmune liver disease, is the most common reason for referral for liver transplant in BC First Nations people. Largely affecting coastal Nations in a rate eight times that of the non-First Nations populations, we set out to understand the specific clinical features in this population and define guidelines for diagnosis of liver disease. Several BC First Nations families and individuals have joined our project, and linkage analysis is underway to define the genetic basis of the condition in this population.

Through funding from a CIHR team grant and the work of a MSc student (Sorcha Collins), we were able to assess the frequency and whether the CPT1A P479Lvariant increases risk for infant mortality in the Inuit of Nunavut and Inuvialuit of NWT.

Moreover, with this funding and new funding from the Nunavut government we worked with the Chief Medical Officer of Health (Dr. Geraldine Osborne) of Nunavut to review causes of infant mortality in Nunavut 1999-2008 and to develop a sustainable surveillance system, Nutaqqavut Health Information System within the Nunavut Public Health System that collects information to understand the determinants of health for infants and children of Nunavut.

Furthermore, through funding from the First Nations and Inuit Health Branch of Health Canada, and in partnership with Inuit Tapiriit Kanatami, we are utilizing the data derived from the 2006 Aboriginal Children's survey to understand better how to prevent Sudden Infant Death Syndrome (SIDS) with public health promotion. This project, Looking to the Future: Early Inuit Health utilizes the infant and early child care giver responses to understand barriers to breast feeding, the types of chronic diseases of concern, and access to health care.

We are also interested in the determinants of birth outcomes with a focus on prevention. Anders Erickson (PhD student) is leading a CIHR funded project encompassing BC, Yukon and Alberta, determining whether proximity to environmental hazards increase the risk for adverse outcomes such as Intrauterine Growth Restriction (IUGR), prematurity, small for gestational age, and birth defects. This project builds in concept from other work we have been carrying out on exploring birth outcomes in Nunavut and now other circumpolar countries. Population genetics factors, nutrition, high rates of smoking in pregnancy may all affect birth outcomes in Northern populations. This on-going work, with national and international collaborators, is in part an activity of the International Union of Circumpolar Health Birth Defects and Birth Outcomes working group.

In the recent 2010 presidential address, published in the March 2011 issue of the American Journal of Human Genetics, Dr. Roderick McInnes discusses issues of cultural sensitivity with regards to genetic research. We are pleased to be featured in this article for our role in conducting research that is recognized as being successful from both indigenous community and academic perspectives. The reference for Dr. McInnes address is "McInnes, RR. Culture: The Silent Language Geneticists Must Learn - Genetic Research with Indigenous Populations. American Journal of Human Genetics 88: 254-261. 2011".

First Nations Peoples of BC art depicting Loon and her offspring with LQTS

We are carrying out research to understand why there is such a high rate of hereditary Long QT Syndrome (LQTS) in the Gitxsan people of Northern BC.

This study was initiated in 2005, when concerned community members asked researchers at the University of British Columbia to address the question of why there seemed to be a high rate of Long QT Syndrome (LQTS) in the Hazelton area of Northern BC. This led to a collaborative effort between community members and health care providers in Hazelton, and the University of British Columbia.

LQTS is named for the segment on ECG that roughly represents a ventricular action potential, that is, the QT interval. A prolonged or "Long QT" segment suggests the possibility of a predisposition to arrhythmia secondary to aberrant ion channel function. Twelve known genes can cause the hereditary form of LQTS, which can occur in any ethnic group. Through this community-based study, a unique mutation in the KCNQ1 gene (V205M) which causes LQTS type 1, was delineated and subsequently shown to be pathogenic.

Currently, over 300 participants from Northern BC have enrolled in the study and more than 50 individuals with the mutation have been identified. Medical care has been put in place for those affected. Since the features of LQTS Type 1 (fainting, arrhythmia and sudden cardiac arrest) are treatable with beta blockers, the recognition of the condition and defining the mutation has allowed directed medical care to those affected. At least 10-15% of those with LQTS will have a second mutation in the same or another gene, therefore we have started linkage studies to determine if secondary genetic factors influence the presentation.

Our original community based study which set out to define the gene mutation and the impact of the condition within the population was funded for 4 years by the CIHR. A renewal for the next 5 years has been confirmed which will focus on the broad effect of the mutation (which may predispose to hearing loss and other clinical conditions), secondary genetic factors and the long term clinical presentation, including response to medication.

Newly published studies have suggested gene changes in KCNQ1 increases the chance of diabetes. We are currently completing a sub study that examines whether the gene changes that cause Long QT syndrome in the Gitxsan may also increase someone’s chances of developing type 2 diabetes (diabetes mellitus). Comparisons of blood sugar levels and other factors will be made between those with the known gene changes and those without.

Furthermore, over 75% of our participants are female. We will also try to understand why men, especially those at highest risk are not willing to participate in genetic testing.

If you, or one of your family members, have a diagnosis of LQTS and are of Gitxsan First Nations ancestry, we invite you to take part in this research study. Please see our recruitment letter (below in Additional information) and contact Research Coordinator, Sarah McIntosh, at 1-888-853-8924 or  if you are interested in participating.

Additional information

Publications

Jackson H, Huisman L, Sanatani S, Arbour LLong QT Syndrome. Canadian Medical Association Journal April 2011 Early Online Release.

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. 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.

First Nations Peoples Totem pole

Primary Biliary Cirrhosis is the most common reason for liver transplant referrals among the First Nations People of British Columbia.

We are carrying out research to find out why.

Primary Biliary Cirrhosis (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.

Principal investigator: Dr. Laura Arbour
Co-investigators: Drs. Leigh Field, Eric Yoshida
Collaborators: Drs. Andrew Mason and James Kelly.
Project was funded by: Canadian Liver Foundation
Additional/student funding was provided byt: 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 .

Additional Information

Media

PBC Publications

Ko HH, Chung H, McMahon B, Hurlburt K, Arbour L, Yoshida E. 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, 2006.

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

Yoshida EM, Riley M, Arbour LTAutoimmune liver disease and the Canadian First Nations Aboriginal communities of British Columbia's pacific northwest. World J Gastroenterol 12(23):3625-3627, 2006.

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

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

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

Landscape Nunavut

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.

A research team was developed with key individuals from all Inuit regions and has worked in partnership with the Inuit Tapiriit Kanatami (ITK). Our analysis has yielded important findings pertinent to the health concerns of Inuit children. We hope that our reports have served to benefit health policy developments in the Inuit Nunangat regions.

The reports were not only prepared for Health Canada but public message leaflets and brochures were created and made available to the community.

More about Aboriginal Children's Survey (ACS)

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

Publications:

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

Asuri S, L. Arbour, Looking to the Future: Report on determinants of Breastfeeding in the Inuit Regions of Canada-October 1, 2010 (posted on ITK website)
Landscape Northern BC

1. The Secondary Analysis of Reproductive and Environmental Health Data: 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.

Furthermore, epidemiological research in rural, remote and northern regions is a particular challenge due to low-density populations living throughout an expansive area.

As a result, the surveillance of sentinel health outcomes may lack the robustness required to substantiate evidence-based health policy directives.

This project is an analysis of environmental and reproductive health in British Columbia, Yukon and Alberta with a focus on small area/low-density populations.

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.
We apply a Watershed Approach Framework that focuses on hydrologically-defined geographic regions capable of characterizing the cumulative multi-stressor environmental exposure risk at the community scale.

Funders: CIHR, CAREX Canada, BCEOHRN
Principal Investigator: L. Arbour
Co-investigators: L. Chan (UNBC), S. Venners (SFU)

If you'd like to learn more about this project, please contact Anders Erickson (project lead) at

2. Birth Outcomes in Nunavut and the circumpolar world

Chart review and Canadian-wide jurisdictional comparisons have confirmed that the over-all birth defect 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.
As an activity of the International Union of Circumpolar Health Birth Defects and Birth outcomes working group, initiatives have begun to map the available surveillance systems, provide assistance in standardizing systems to promote comparability between regions. Comparative analyses are under discussion.

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

Publications

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

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

Presentations

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

Cowan J, Osborne G, Sobol I, Arbour L. 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

Sy C., Cowan J., Sobol I, Osborne G, Arbour L. 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. Congenital Anomalies in Canada's Northern Territories. Yellowknife, NWT, International Congress of Circumpolar Health 14, July 2009.

Arbour L, Vaktskjold A. 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

Inuit art-work of mother lifting her child - commissioned work for NIHS logo

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.

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.

There was a lot of valuable and positive feedback during development from many Nunavut health care providers. However constraints have resulted in the discontinuation of this program.

Project funding: Department of Health & Social Services (Government of Nunavut), including Canada Prenatal Nutrition Program (CPNP), Public Health Agency of Canada (PHAC), CIHR (Canadian Institutes of Health Research)

This project is no longer active, please contact Sorcha Collins (scollins@uvic.ca) if you have further questions.

Links

Forms

Guidelines

Brochure:

Media

NHIS Health Care Provider Newsletters

Publications

Lauson S, McIntosh S, Obed N, Healey G, Asuri S, Osborne G, Arbour L. (2011).The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children). Int J Circumpolar Health. Sep;70(4):363-72.

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

Presentations

Arbour, L., Healey, G., Orlaw, C., Lauson, S., McIntosh, S., Osborne, G. (2009). The Development of a Comprehensive Maternal Child Health Surveillance System for Nunavut. Platform presentation. 3rd International Meeting on Indigenous Child Health. (Albuquerque, NM).

Arbour, L., Osborne, G., Lauson, S. (2009). Overview of the Pregnancy Outcome and Child Health Surveillance System. Public Health Nursing Conference. (Iqaluit, NU).

Landscape Canadian Arctic

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 a hepatic enzyme, which transports long chain fatty acids into the mitochondrion for use as energy during fasting or prolonged exercise. 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 prevalent in Inuit communities 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 p.P479L variant, have presented with symptoms of CPT1A deficiency or with sudden death. The variant is of particular concern as Inuit and BC First Nations populations in Canada experience infant mortality rates that far exceed their non-aboriginal counterparts.

In order to better understand the population implications of the variant in the North, we determined the prevalence of the P479L variant in all three territories, both in the overall population and in unexpected infant death (SIDS, SUDI and death due to infection). Although the variant was associated with unexpected infant death in Nunavut as a whole, population stratification could not be ruled out in the Baffin region. Prospective studies are planned for Nunavut to determine if the variant confers risk or is a marker for other risk factors.

scollins@uvic.ca

Publications

Sorcha A. Collins, Graham Sinclair, Sarah McIntosh, Fiona Bamforth, Isaac Sobol, Geraldine Osbourne, Andre Corriveau, Maria Santos, Brendan Hanley, Cheryl R. Greenberg, Hilary Vallance, Laura ArbourCarnitine Palmitoyltransferase I P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. Molecular Genetics and Metabolism. 2010 Oct-Nov;101(2-3):200-4. Epub 2010 Jul 24.

Sinclair GB, Collins S, Popescu O, McFadden D, Arbour L, Vallance HD. Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations. Pediatrics 130(5):e1162-9, Nov 2012. Epub 2012 Oct 22.

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

Presentations

Arbour LThe Carnitine Palmitoyltransferase I variant and sudden unexpected infant death in British Columbia First Nations. 

Collins S, Sinclair G, Osborne G, Corriveau A, Santos M, Hanley B, Bamforth F, Greenberg C, Vallance H, Arbour L. 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. Screening for Carnitine-Palmitoyltransferase, Type 1A (CPT1A) in First Nations Populations: A Community Conversation. March 16, 2011. Vancouver BC.

Collins SA, Osborne G, Arbour LUnderstanding 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 LThe 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. 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. 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.

Journal Articles

  • 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. 2016;1–26. DOI: 10.1080/10408444.2016.1211090
  • 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. In Press:TBA: TBA.
  • Auger N, Fraser W, Arbour L, Healy-Profitós J, Drolet B. (2016). Preeclampsia and risk of infantile hemangioma. British Journal of Dermatology.  doi: 10.1111/bjd.14958. [Epub ahead of print].
  • 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.
  • 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.Journal of Genetic Counseling. 25(5): 1-9. http://dx.doi.org/10.1007/s10897-016-9991-4
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Caron NR,Thira SA, McCormick RM, Butler-Walker JJE, Lalonde CE, Arbour L, Vedan RW, Jovel EM. (2014). Capacity Interrupted: The Kloshe Tillicum Graduate Student Training Experience. Canadian Journal of Native Education. 37(1): 165-192.
  • 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.
  • 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.
  • Arbour L. (2013). Developing Healthy Communities: Understanding maternal child health determinants in Nunavut. International Journal of Circumpolar Health. 72(Supplemt 1): 51-55.
  • 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.
  • 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.
  • Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. (2012). Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.American journal of medical genetics. Part A. 158A(10): 2606-9.
  • Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. (2012). Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.American journal of medical genetics. Part A. 158A(7): 1662-9.
  • 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.
  • Lauson S, McIntosh S, Obed N, Healey G, Asuri S, Osborne G, Arbour L. (2011). The development of a comprehensive maternal-child health information system for Nunavut-Nutaqqavut (Our Children).International journal of circumpolar health. 70(4): 363-72.
  • 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.
  • Jackson H, Huisman LA, Sanatani S, Arbour LT. (2011). Long QT syndrome. CMAJ : Canadian Medical Association Journal. 183(11): 1272-5.
  • McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. (2010). Hypomorphic temperaturesensitive alleles of NSDHL cause CK syndrome.American journal of human genetics. 87(6): 905-14.
  • 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.
  • Arbour L, Parkinson A, Kulig JC. (2010). Human health at the ends of the earth.Rural and remote health. 10(2): 1534.
  • Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K, FACT collaboration [including Arbour LT], Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N. (2010). Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.Journal of medical genetics. 47(5): 342-7.
  • Peters S, Cowan J, Osborne G, Sobol I, Arbour L. (2010). Rates of Hospitalization for Lung Infection of Inuit Infants from the Baffin Region and Association with Heart Defects 2000-2004. International Journal of Circumpolar Health: Proceedings of the 14th International Congress of Circumpolar Health. Supplements(7): 258-262.
  • Collins SA, Sinclair G, McIntosh S, Bamforth F, Thompson R, Sobol I, Osborne G, Corriveau A, Santos M, Hanley B, Greenberg CR, Vallance H, Arbour L. (2010). Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.Molecular genetics and metabolism. 101(2-3): 200-4.
  • 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.International journal of circumpolar health. 68(5): 443-58.
  • Caulfield T, Fullerton SM, Ali-Khan SE, Arbour L, Burchard EG, Cooper RS, Hardy BJ, Harry S, Hyde-Lay R, Kahn J, Kittles R, Koenig BA, Lee SS, Malinowski M, Ravitsky V, Sankar P, Scherer SW, Séguin B, Shickle D, Suarez-Kurtz G, Daar AS. (2009). Race and ancestry in biomedical research: exploring the challenges.Genome medicine. 1(1): 8.
  • Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. (2009). Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.BMC genomics. 10: 526.
  • du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. (2009). Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.American journal of medical genetics. Part A. 149A(11): 2469-78.
  • Arbour L (principle author), Fernandez C (principle author), Albersheim S, Fernandez C, Hilliard R, Razack S, Templeton C (Board Representative), Tsai E(Chair). (2008). Guidelines for genetic testing of healthy children - addendum. Paediatrics and child Health. 13(4): 311.
  • Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D; Factors Associated with Childhood Tumours (FACT) Collaboration [including Arbour LT], Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N.(2008). Constitutional 11p15 abnormalities, including heritable imprinting center mutations, causenonsyndromic Wilms tumor.Nature Genetics. 40(11): 1329-1334.
  • 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 : official journal of the American College of Medical Genetics. 10(7): 545-50.
  • 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.
  • Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E. (2008). Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.Molecular cytogenetics. 1: 1-9.
  • Chung HV, Riley M, Ho JK, Leung B, Jevon GP, Arbour LT, Barker C, Schreiber R, Yoshida EM. (2007). 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. 21(9): 565-8.
  • Arbour L, Rupps R, MacDonald S, Forth M, Yang J, Nowdluk M, Osbourne G.(2007). Congenital heart defects in Canadian Inuit: is more folic acid making a difference?. Alaska Medicine: Proceedings of the 13th International Congress of Circumpolar Health. 49(2 Suppl): 163-6.
  • 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 pacificnorthwest: an approach to investigations of Alaska Natives and the FirstNations of British Columbia.British Columbia Medical Journal. 48(5): 216-221.
  • Altman AD, McLaughlin J, Schellenberg R, Penner C, Arbour L, Tsang P, Ballem P, Lim KI. (2006). Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report.Journal of obstetrics and gynaecology Canada. 28(1): 27-31.
  • Arbour L, Cook D. (2006). DNA on loan: issues to consider when carrying out genetic research with aboriginal families and communities.Community genetics. 9(3): 153-60.
  • Yoshida EM, Riley M, Arbour LT. (2006). Autoimmune liver disease and the Canadian First Nations Aboriginal Communities of British Columbia's Pacific Northwest.World journal of gastroenterology : WJG. 12(23): 3625-7.
  • Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. (2006). Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.American journal of human genetics. 79(3): 500-13.
  • 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 population.Canadian journal of gastroenterology. 19(5): 305-10..
  • Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E. (2005). Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.American journal of medical genetics. Part A. 139(3): 173-85.
  • Gair JL, Arbour L, Rupps R, Jiang R, Bruyère H, Robinson WP. (2005). Recurrent trisomy 21: four cases in three generations.Clinical genetics. 68(5): 430-5.
  • Robinson WP, McGillivray B, Lewis ME, Arbour L, Barrett I, Kalousek DK. (2005). Prenatally detected trisomy 20 mosaicism.Prenatal diagnosis. 25(3): 239-44.
  • Egeland GM, Berti P, Soueida R, Arbour LT, Receveur O, Kuhnlein HV. (2004). Age differences in vitamin A intake among Canadian Inuit.Canadian journal of public health. 95(6): 465-9..
  • Arbour L, Gilpin C, Millor-Roy V, Platt R, Pekeles G, Egeland GM, Hodgins S, Eydoux P. (2004). Heart defects and other malformations in the Inuit in Canada: a baseline study.International journal of circumpolar health. 63(3): 251-66.
  • Arbour L, Field L, Ross P, Erikson A, Yoshida E. (2004). The mystery of primary biliary cirrhosis in British Columbia's First Nations people.International journal of circumpolar health. 63 Suppl 2: 185-8.
  • Canadian Pediatrics Society (principle Author: Arbour L). (2003). Guidelines for genetic testing of healthy children. Paediatrics and Child Health. 8(1): 42-45.
  • Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. (2003). Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. American journal of human genetics. 73(4): 791-800.
  • Aubertin G, Cripps S, Coleman G, McGillivray B, Yong SL, Van Allen M, Shaw D, Arbour L. (2002). Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management.Prenatal diagnosis. 22(5): 388-94.
  • Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR, Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. (2002). The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.American journal of human genetics. 71(4): 975-80.
  • Arbour L, Christensen B, Delormier T, Platt R, Gilfix B, Forbes P, Kovitch I, Morel J, Rozen R. (2002). Spina bifida, folate metabolism, and dietary folate intake in a Northern Canadian aboriginal population.International journal of circumpolar health. 61(4): 341-51.
  • Rajcan-Separovic E, Robinson WP, Stephenson M, Pantzar T, Arbour L, McFadden D, Guscott J. (2001). Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13).American journal of medical genetics. 99(4): 320-4.
  • Rahman N, Arbour L, Houlston R, Bonaïti-Pellié C, Abidi F, Tranchemontagne J, Ford D, Narod S, Pritchard-Jones K, Foulkes WD, Schwartz C, Stratton MR. (2000). Penetrance of mutations in the familial Wilms tumor gene FWT1.Journal of the National Cancer Institute. 92(8): 650-2.
  • Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB. (2000). Variable onset of metachromatic leukodystrophy in a Vietnamese family.Pediatric neurology. 23(2): 173-6.
  • 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 10-year retrospective analysis.Canadian journal of gastroenterology. 14(9): 775-9.
  • Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. (1999). 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. 84(2): 151-7.
  • Bishai R, Arbour L, Lyons C, Koren G. (1999). Intrauterine exposure to clomiphene and neonatal persistent hyperplastic primary vitreous.Teratology. 60(3): 143-5.
  • Razack S, Arbour L, Hutcheon R. (1999). Proposed model for interaction between residents and residency training programs, and pharmaceutical industry.Annals (Royal College of Physicians and Surgeons of Canada). 32(2): 93-6.
  • Shkolny DL, Beitel LK, Ginsberg J, Pekeles G, Arbour L, Pinsky L, Trifiro MA. (1999). Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.The Journal of clinical endocrinology and metabolism. 84(2): 805-10.
  • Rahman N, Abidi F, Ford D, Arbour L, Rapley E, Tonin P, Barton D, Batcup G, Berry J, Cotter F, Davison V, Gerrard M, Gray E, Grundy R, Hanafy M, King D, Lewis I, Ridolfi Luethy A, Madlensky L, Mann J, O'Meara A, Oakhill T, Skolnick M, Strong L, Stratton MR. (1998). Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1.Human genetics. 103(5): 547-56.
  • Kukuvitis A, Deal C, Arbour L, Polychronakos C. (1997). An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. The Journal of clinical endocrinology and metabolism. 82(4): 1192-4.
  • Rahman N, Arbour L, Tonin P, Baruchel S, Pritchard-Jones K, Narod SA, Stratton MR. (1997). The familial Wilms' tumour susceptibility gene, FWT1, may not be a tumour suppressor gene.Oncogene. 14(25): 3099-102.
  • Rahman N, Arbour L, Tonin P, Renshaw J, Pelletier J, Baruchel S, Pritchard-Jones K, Stratton MR, Narod SA. (1996). Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21.Nature genetics. 13(4): 461-3.
  • Treacy E, Arbour L, Chessex P, Graham G, Kasprzak L, Casey K, Bell L, Mamer O, Scriver CR. (1996). Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.The Journal of pediatrics. 129(3): 445-8.
  • Arbour L, Watters GV, Hall JG, Fraser FC. (1996). Multifactorial inheritance of non-syndromic macrocephaly.Clinical genetics. 50(2): 57-62.
  • Arbour L, Rosenblatt B, Clow C, Wilson GN. (1988). Postoperative dystonia in a female patient with homocystinuria.The Journal of pediatrics. 113(5): 863-4.

Non Refereed Articles

  • Arbour L. (2010). Genetics, population genetics and birth defects in the North -- (Commentary). International Journal of Circumpolar Health: Proceedings of the 14th International Congress of Circumpolar Health. Supplements(7): 183-185.
  • Arbour L , Narod S , Glendon G , Pollak M , Seymour R , Miner L , Leung P. (1994). In-vitro fertilisation and family history of breast cancer.Lancet. 344(8922): 610-1.

Book Chapters

  • Polanco F, Arbour L. (2014). Type 2 Diabetes in Indigenous Populations: Why a focus on genetic susceptibility is not helping.De Leeuw S, Greenwood M, Reading C. Our Health, Our Selves: Determinants of Indigenous Peoples' Health in Canada. Last Author In Press, Canadian Scholars' Press Inc, Toronto, Canada Number of Contributors: 2
  • Pullman D, Arbour L. (2009). Appropriation of Genetic Material. The Ethics of cultural Appropriation. Last Author Published, Blackwell Publishing, Number of Contributors: 2
  • Oyvind J, Arbour L. (2008). Maternal and Child Health. Young TK, Bjerregaard P. Health Transitions in Arctic Populations. : 379-402. Last Author Published, University of Toronto Press, Toronto, Canada
  • Chapter 1 of Medically Assisted Procreation.  The Law Reform Commission of Canada.  Protection of Life Series, Working Paper, 65, 1992, Government of Canada Publications.

Reports

  • Asuri S and L. Arbour. (2010). Looking to the Future: Report on determinants of Breastfeeding in the Inuit Regions of Canada. 12. Health Canada and ITK
  • Asuri S, L. Arbour. (2010). Looking to the Future: Report on prevention of SIDS in Inuit regions. 15. Health Canada and ITK
  • Maheffey K, Arbour L.(2009). Report on Smoking and Pregnancy outcome in the Qikiqtani region of Nunavut 2003-2005. Department of Health and Social Services, Nunavut
  • Collins S, Arbour L. (2009). Report on Infant Mortality in Nunavut 1999-2009. Department of Health and Social Services, Nunavut

Online Resources

  • L Arbour, E. Hoyme, J. Sheih. Inherited Systemic Hyalinosis (Genereviews). 2008-02-27. Number of Contributors: 3 Clinical care guidelines for this rare disorder
  • Arbour L.  The Mystery of Primary Biliary Cirrhosis in British Columbia's First Nations, 2005. http://bchepatitis.ca/content/view/29/57/

 Clinical Care Guidelines

  • PREVENTION AND MANAGEMENT OF HYPOGLYCAEMIA IN BC FIRST NATIONS’ INFANTS AND YOUNG CHILDREN. 2015-02-06. Contributors: Laura Arbour,Lucy Barney, Charmaine Enns, Melanie Foster, Carolyn Henson, Graham Sinclair, Sylvia Stockler, Hilary Vallance, Kathy Withers This medical guideline provides evidence-based information on theprevention and management of hypoglycaemia in First Nations infants andyoung children. The guideline includes information about a common geneticvariant (P479L) in carnitine palmitoyltransferase I (CPT1a) that may increasethe risk of hypoglycaemia in infants and young children. The key message isthat clinicians need to provide information to First Nations families abouthealthy feeding practices with an aim to prevent hypoglycaemia, especiallyduring intercurrent illness or during periods of prolonged fasting. Thisinformation should be integrated with other key prevention and healthpromotion messages, including breast feeding and safe sleep promotionmessaging.
  • Guidelines for genetic testing of healthy children: Jan 1 2003 Reaffirmed: Jan 1 2011. 2003-01-01. Number of Contributors: 10 Contributors: Laura Arbour, Paul Byrne, Christine Harrison, Ron Laxer , Bryan Magwood, Jonathan Tolkin, Consultants: Jaques Belik, John Watts, Abbyann Lynch Clinical practice and policy guidelines for genetic testing in children.

Sirisha Asuri, PhD
Research Assistant

Sirisha Asuri obtained her PhD in Biochemistry and Molecular Biology in 2007 from Indiana University School of Medicine, Indianapolis, USA. Her graduate research focused on the molecular, cellular and genetic aspects of cancer.

Her interest in clinically-oriented research led Sirisha to a postdoctoral fellowship in cardiac stem cell research at the University of Illinois at Chicago. With her progressive evolvement into a health researcher, she finds herself a great fit in Dr. Arbour's research group, studying genetic diseases in Aboriginal communities as well as leading the research analysis of the Aboriginal Children's Survey.

Sirisha sees this project as a close fit to her career goal of "improving community health through efficient translation of medical research." The aim of the project is to identify the health practices of the Inuit children such as infant mortality, breastfeeding, chronic diseases and developmental milestones.

She hopes the analysis goes beyond survey reports and results in medically informed and effectual policy changes for the benefit of this community. Apart from science, Sirisha's interests include traveling (any place, anytime!), outdoor adventure, books and cooking up unique (yet…mostly yummy) dishes for family and friends!


Sorcha Collins, MSc
Project Manager
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 McIntosh, MSc
Genetic Counsellor and Research Coordinator

Tel: 250-853-3262 or 1-888-853-8924

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" and " The Impact of Long QT Syndrome on First Nations people of Northern British Columbia: A Community Based Research Program".

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.


Beatrixe Whittome, PhD
Research Assistant
 

Beatrixe completed her PhD at the University of Victoria's Biology Department in 2006. She volunteered at Victoria General Hospital Medical Genetics Department under the supervision of Dr. Patrick MacLeod , compiling information for literature searches on genetic disorders and determining types, number of cases, and eligibility for genetic testing of cancer patients.

Beatrixe has been involved in literature reviews, Long QT Syndrome pedigree analysis, managment of ECG database, and administration.  Beatrixe also works for the BC Ministry of Health.

Anders Erickson, MSc
PhD Graduate 2016
 

Anders was born and raised in Prince George BC, and completed his BSc in Geography at the University of Victoria in 2004 with a focus on medical/health geography. He completed a Master's in Community Health Sciences at the University of Northern British Columbia in 2009, after working privately for a couple of years establishing his own consulting business.

His research interests are varied, but predominantly focus on spatial/environmental epidemiology, reproductive health, food security and gene-environment interactions in chronic diseases.

Anders has recently returned to Victoria to start an interdisciplinary PhD program within the departments of Medical Sciences and Geography at UVic. His work with Dr. Laura Arbour, The Secondary Analysis of Reproductive and Environmental Health Data: A Spatial Analysis of Adverse Birth Outcomes in Western Canada focuses on the spatial analysis of industrial contaminants and adverse birth outcomes in Western Canada.

This project is principally funded from a two-year CIHR operational grant. The goal is to produce a robust spatial model at the local watershed scale capable of analyzing birth outcomes particularly attuned for remote and Indigenous populations where the risk of environmental exposures is high and population density is low.

Sorcha Collins, MSc
PhD Candidate

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.

Mailing address:

Dr. Laura Arbour
Community Genetics Research Program/Island Medical Program
University of Victoria
P.O. Box 1700, STN CSC
Victoria, BC Canada V8W 2Y2

Courier address:

Dr. Laura Arbour
Island Medical Program
Medical Sciences Building, Rm 104
University of Victoria
3800 Finnerty Road
Victoria, BC Canada V8P 5C2

Phone: 250- 853-3262
Toll-free: 1-888-853-8924
Fax: 250- 472-4283 
Email:  (Sarah McIntosh)

For individual staff or student contact information, please see our listing of people in the office.

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