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Dr. Laura Arbour

(photo: Laura Arbour and students)

 

Biography

Dr. Arbour is a Professor in the Department of Medical Genetics at UBC and an Affiliate Associate 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.

Research

About the Community Genetics Research Program

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 P479L variant 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".

Impact of Long QT Syndrome on First Nations people of Northern British Columbia

 

(image: Indigenous art, bird)

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 sarahmc@uvic.ca if you are interested in participating.

Additional information

Publications

Jackson H, Huisman L, Sanatani S, Arbour L. Long 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.

Primary Biliary Cirrhosis in the First Nations People of BC

(image: Totem)

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 are studying 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 are also investigating a connection with inflammatory arthritis and other autoimmune conditions. Our goal is 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.
Primary funding: Canadian Liver Foundation
Additional/student funding: Kloshe Tillicum Network Environments for Aboriginal Health Research and BC Clinical Genomics Network

If you, or one of your family members, have a diagnosis of PBC and are of First Nations ancestry, we invite you to take part in this research study. Please see our recruitment letter and contact Research Coordinator, Sarah McIntosh, at 1-888-853-8924 or sarahmc@uvic.ca if you are interested in participating.

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 LT. Autoimmune 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.

Looking to the future: Early Inuit health

(image: Arctic landscape)

Our objective is 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 will be 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 has been developed with key individuals from all Inuit regions and is working in partnership with the Inuit Tapiriit Kanatami (ITK). To date, our analysis has yielded important findings pertinent to the health concerns of Inuit children. We hope that our reports will serve to benefit health policy developments in the Inuit Nunangat regions.

The reports will not only be prepared for Health Canada but public message leaflets and brochures will be 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 larbour@uvic.ca

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)

Birth outcomes in BC, Alberta, Yukon, Nunavut and in the circumpolar world

(image: Houses)

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 250-472-5547 or anderse@uvic.ca

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

Nutaqqavut 'Our Children' Health Information System

(image: NHIS_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, has developed the Nutaqqavut Health Information System (NHIS), previously known as the Pregnancy Outcome and Child Health (POCH) Surveillance. This project was initially funded by a team grant for Circumpolar Health through CIHR. The system is now incorporated into Nunavut's Public Health Strategy: Developing Healthy Communities.

NHIS will supply Nunavut with a wealth of public health information and allow health services to focus future action plans on prevention and treatment. In addition, NHIS will provide an opportunity to investigate trends, evaluate causes of specific pregnancy outcomes and analyze risk factors in mothers and children.

After extensive consultations, we have now introduced 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. Key information from these forms will be collected in NHIS.

Thus far, there has been a lot of valuable and positive feedback from many Nunavut health care providers. We look forward to continued feedback and working towards NHIS becoming an integrated sustainable system for the future of Nunavut.

Project Heads: Dr. Geraldine Osborne, Dr. Laura Arbour

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)

If you would like to learn more about this project, please contact Sorcha Collins, Project Manager, at 250-853-3661 (toll free 1-877-858-3661). Alternatively, you can email us at: NHIS@uvic.ca (general inquiries) or NHIS@gov.nu.ca

Additional Information

*If you are a Nunavut health care provider and need extra copies of any of the following NHIS forms for your practice, please contact Stores for your region.

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).

Carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant and Infant Mortality Northern Canada

(image: Iceberg)

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 Arbour. Carnitine 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.

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 L. 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: 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. 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.

Publications

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. (Winner of the Thompson Williams award for the most significant contribution to the CJG 2005)

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. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet Part A 139(3):173-85, 2005.

Robinson WP, McGillivray B, Lewis ME, Arbour L, Barrett I, Kalousek DK. Prenatally detected trisomy 20 mosaicism. Prenatal Diagnosis 25(3):239-244, 2005.

Gair JL, Arbour L, Rupps R, Jiang R, Bruyere H, Robinson WP. Recurrent trisomy 21: four cases in three generations. Clin Genet 68(5):430-435, 2005.

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.

Friedman JM, Baross A, Delaney AD, Ally A, Arbour 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 SJM, Kennedy, 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 S, Zahir F, Eydoux P, and Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am. J. Hum.Genet. 79:500–513, 2006.

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

Altman AD, McLaughlin J, Schellenberg R, Penner C, Arbour L, Tsang P. Ballem P. Lim KI. Hereditary angioedema managed with low-dose danazol and C1 esterase inhibitor concentrate: a case report. J Obstet Gynaecol Can 28(1):27-31, 2006.

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.

Chung H, Riley M, Ho JK, Leung B, Jevon PG, Arbour LT, Barker C, Schreiber R, Yoshida EM. 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. Can J Gastroenterology 21(9):565-568, 2007.

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.

Godwin K, Sibbald B, Lowry RB, Bedard T, Kuzeljevic B, Arbour L. 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 99(4): 271-275, 2008

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. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. Mol Cytogenet. 11:1-23. 2008

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, Cook JA, Pujol P, Maher ER, Birch JM, Arbour L, Bonaïti-Pellié C, Cannon-Albright L, Chompret A, Cole T, Dhooge C, Dupuis W, Foot A, Foulkes W, Galvin H, Gnekow A, Graf N, King D, Kingston J, Lewis I, Millot F, O'Meara A, Price H, Royer-Pokora B, Schumacher V, Schwartz C, Shannon R, Sheridan E, Tonin P, Weirih A., Stiller CA, Pritchard-Jones K, Rahman N., Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet. Nov;40(11):1329-34. 2008

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 SJ, Malinowski M, Ravitsky V, Sankar P, Scherer SW, Séguin B, Shickle D, Suarez-Kurtz G, Daar AS, Race and ancestry in biomedical research: exploring the challenges. Genome Medicine 1:8. 2009,

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

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. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.BMC Genomics. Nov 16;10:526. 2009

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. Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. Am J Med Genet A. Nov;149A(11):2469-78. 2009

Arbour L, Beking K, Le N, Ratner P, Spinelli J, Teschke K, Gallagher R, Abanto Z, Dimich-Ward H . Rates of congenital anomalies and other adverse birth outcomes in an offspring cohort of registered nurses from British Columbia, Canada. Can J Public Health 2010;101(3)230-234.

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 Arbour. Carnitine 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.

Mehaffey K, Higginson A, Cowan J, Osborne GM, Arbour LT 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): 1484.2010

Arbour L, Parkinson A, Kulig JC. Human health at the ends of the earth. Rural and Remote Health 10(2):1534. 2010

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

• 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. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics.87(6):905-14. 2010

• Jackson H, Huisman L, Sanatani S, Arbour LT. Long QT syndrome in First Nations communities in northern British Columbia. CMAJ 183 (11): 1272-1275. Apr 2011.

• Helen Dimich-Ward, Kris Beking, Anne Dybuncio, John J. Spinelli, Richard P. Gallagher, Pamela A. Ratner, Laura Arbour, Kay Teschke. Congenital Anomalies in the offspring of nurses: Association with area of employment during pregnancy: to International Journal of Occupational and Environmental Health 2011 17: 195-201.

• S Lauson, G Osborne, G Healey, N Obed, L. Arbour. The development of a comprehensive maternal child health surveillance system for Nunavut. International Journal of Circumpolar Health –2011: 70(4) 362-374.

• Erickson AC, Arbour LT.  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(1): 102.  Feb 2012

• Tsang E , Rupps R , McGillivray B , Eydoux P , Marra M , Arbour L , Langlois S , Friedman JM , Zahir FR. 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, Terrier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Beckwith-Wiedemann Syndrome in Sibs Discordant for IC2 Methylation:  Accepted for publication in the American Journal of Medical Genetics, Feb 2012

People

Research Staff

Image: Sirisha Asuri

Sirisha Asuri, PhD
Research Assistant
asuris@uvic.ca
Tel: 250-472-4650

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!

Image: Sorcha Collins

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. In her free time, Sorcha often enjoys the outdoor life in Victoria with her husky at her side or battles the weeds in her garden.
Sarah McIntosh

Sarah McIntosh, MSc
Genetic Counsellor and Research Coordinator
sarahmc@uvic.ca
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.

Image: Beatrixe Whittome Waygood

Beatrixe Whittome, PhD
Research Assistant
whittome@uvic.ca
Tel: 250-472-4603

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.

At present, Beatrixe is a Research Assistant for Dr. Arbour and chiefly involved with literature searches, manuscript editing, Long QT Syndrome pedigree analysis, and administration.

Students

Image

Anders Erickson, MSc
PhD Candidate
anderse@uvic.ca
Tel: 250-472-5547

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.

Funding

Important links

Contact

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: whittome@uvic.ca (Beatrixe Whittome)

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

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