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Projects

Atlantic Medical Genetics and Genomics Initiative (AMGGI)

Description | Team | News | Publications | GE3LS | Partners / Funders

Description

The Atlantic Medical Genetics & Genomics Initiative (AMGGI) is a $9.6 Genome Canada project to ascertain, collect and molecularly characterize 28 new monogenic disorders in Atlantic Canada.

AMGGI was developed to systematically identify genes and genetic mutations related to familial, monogenic disorders in communities throughout the Atlantic Provinces. The research program links human genetic research efforts in Newfoundland, based at Memorial University, with activities in the three Maritime Provinces, centred at Dalhousie University. The interdisciplinary project team, lead by molecular geneticists, brings together recognized experts in clinical ascertainment, gene discovery, genetic diagnostics, genetic counseling, health economics and human ethics.

The comprehensive program, from ascertainment and discovery to genetic diagnostics and community outreach, leverages regional health care resources through the active recruitment of community-based clinicians to assist in identifying disorders, families and individual cases for the discovery effort. The AMGGI project is generating tangible socioeconomic benefits by improving health care and disease management options for individuals, families and communities in Atlantic Canada burdened by relatively isolated but devastating monogenic disorders, and serves as a model for human genetic research internationally.

The population of Atlantic Canada is internationally recognized as one of the world’s most valued human populations for gene discovery and related medical genomics research. The AMGGI project is a Canadian health research initiative that makes use of the region’s human population structure and history, as well as the quality of the health care system, to provide a streamlined process to identify genes that have a major impact on health.

Knowledge generated from the initiative is transferred to local health care providers to improve clinical management. Thorough evaluation of the impact of genetic information on the health and wellbeing of patients, families and communities and economic costs/benefit analysis is an integral part of the research program. The AMGGI project maximizes use of the Atlantic Canada’s natural human genomics resource for efficient, cost-effective and significant medical breakthroughs.

An integral component of the AMGGI proposal is the innovative study of the potential impacts of genetic discovery on the provision of health care services, including assessing the wellbeing of patients and families who are affected by genetic conditions and who are the most likely consumers of new genetic technologies. The GE3LS (Genomics, Ethics, Environment, Economic, Legal and Social Issues) team examines the values, beliefs and practices of physicians and genetic counselors who are the potential providers of genetic services, as well as those of patients, families and communities in which these services are offered.

The GE3LS team assesses the genetic burden of disease at a variety of levels (personal, community, provincial, federal) and along a number of dimensions (ethical, legal, psychological, sociological, and economic) in a well-defined population. The team includes regional directors of medical diagnostic laboratories as part of the commitment to facilitate knowledge transfer to the health care system.

Q and A

Q: What significance does the discovery of human genes have for disease prevention and health promotion?

A: Virtually all human diseases result from the interaction of genetic variation with environmental factors, such as behaviors and exposures.  Due to the Human Genome Project and other research efforts, many of the estimated 35,000 human genes will be found in the next decade.
Gene variants have already been identified which play a role in childhood diseases (e.g., cystic fibrosis, sickle cell disease, asthma), chronic diseases (e.g., cancer, cardiovascular disease, Alzheimer’s disease), occupational diseases (e.g., bladder cancer), and infectious diseases (e.g., HIV/AIDS).

Q: How genetically similar are we to primates and other organisms?

A: Chimpanzee genes differ, on average, by roughly just 1% from human genes. Other apes’ genes are 95% to 98% identical to ours, too. Rodent genes are 88% identical and chickens come in at 75% identical.  Once you leave the animal kingdom, wholesale comparisons between human genes and those of other species become more difficult. About one-third of the genome of the fruit fly Drosophila melanogaster, for example, contains genes that are only shared by other arthropods, and one-quarter of human genes are shared only by vertebrates.  The function of some genes in flies, plants or worms appear close enough to their human counterparts that these animals can serve as models to study human biology and disease.

Q: Do genes control everything about an organism, or is environment important?

A: The debate over the relative importance of nature and nurture would fill several
encyclopedias, but modern genetics predicts that both should play a role. That should come as no surprise to anyone who views genes as a piece of cellular machinery. Dangerous chemicals, such as cigarette smoke, can jam that machinery or interfere in its workings.

Equally, a therapeutic environment can compensate for a faulty gene. For example, babies who are born with the disease phenylketonuria (PKU) lack an enzyme that metabolizes the amino acid phenylalanine. It therefore builds up to toxic levels causing mental retardation. But babies are now screened for the defect at birth and those with two copies of the defective gene are given special diets low in phenylalanine. As a result, they develop normally.

Q: What can go wrong with the process?

A: The genetic code is so precise that even a change in a single DNA base can have profound effects. The mutation which causes the disease sickle cell anemia, for example, was tracked down to the substitution of a T nucleotide for an A in the gene for the protein hemoglobin, with carries oxygen in red blood cells. As a result, a single protein building block called an amino acid is changed, resulting in a crippled protein.

Sometimes the problem is not the gene sequence, but the location or number of genes. Whole regions of chromosomes can be missing or duplicated, resulting in missing genes or inappropriate activity. Cancer cells, for instance, often have the wrong number of entire chromosomes. Source: http://www.newscientist.com/home.ns

Q: What’s the difference between a Family Tree and a Pedigree?

A: A Pedigree is a more detailed family tree.  Both provide information about who you are related to, but a pedigree can go a step further by providing genetic information about that family.  It can identify individuals who are ‘affected’ and ‘unaffected’ by a specific genetic condition.  By looking at a pedigree, geneticists can begin to determine how a certain gene may be passed from one relative to the next.

Here is an example of a pedigree:

 

 

 

 

 

 

 

 

 

Q: What are some of the steps in gene discovery?

A: Gene discovery begins with clearly defining a trait of interest and determining if that trait has a genetic and/or environmental basis.  Once genetic influence has been established, two research approaches are commonly used to identify the specific genes involved. These are the candidate gene approach and the genomic screening approach. In the candidate gene approach, genes are selected based on their known or predicted biological function and on their hypothesized relation to the disease or trait. A genomic screen is a systematic survey in which polymorphic DNA markers, evenly spaced along all the chromosomes, are used to determine if a marker is inherited along with the trait, indicating genetic linkage.

Once one or more loci have been identified through a genomic screen as possibly containing a gene of interest, additional techniques are needed to locate the exact gene responsible.  Once the location is identified, a physical representation of the genes and DNA in the linked region is constructed.  The geneticist continues to collect families looking for new recombinations that reduce the piece of DNA that all the affected family members share but that has not been inherited by any of the unaffected individuals.

Source: http://www.bookrags.com/research/gene-discovery-gen-02/

Oxford University Press, 2006. "The Selfish Gene (30th Anniversary edition)."  Author: Richard Dawkins

Q: What’s in a gene?

A: Genes are hereditary material passed from parents to their children that determine the make-up of the body.  For the most part, these contributing genetic factors are not very well understood. We hope that by studying the DNA of people with certain conditions and their relatives, we may learn more about how the condition starts and perhaps develop ways of finding it earlier and treating it more effectively.

Q: Why would you want to knockout a zebrafish?

A: A knockout is a procedure used to supress a certain gene function.  By doing this you can learn more about the role of that particular gene.  Zebrafish are the model animal  for doing procedures such as this due to their small size and short life cycle. 


Have a question? Send us a note at info@genomeatlantic.ca

Contacts

Project Manager

Hameed Khan
Telephone: (709)777-2466

Email: hkhan@genomeatlantic.ca


Dalhousie Component

Dr. Mark Samuels Ph.D.
Adjunct Professor - Department of Pathology
Email: Mark.Samuels@dal.ca


Dr. Mark Ludman MD., F.R.C.P.C., F.C.C.M.G.
Head, Division of Medical Genetics
Professor of Pediatrics & Medicine
Dalhousie University
and Maritime Medical Genetics Service
IWK Health Centre
Email: Mark.Ludman@iwk.nshealth


Andrew C. Orr MD
Assistant Professor, Department of Ophthalmology
Dalhousie University
Eye Care Centre
1278 Tower Road
Halifax, Nova Scotia, Canada
B3H 2Y9
Telephone: 902.473.1483
Fax: 902.473.2839
Email: aorr@dal.ca

MUN Component

Dr. Terry-Lynn Young, Project Co-Lead
Associate Professor,Discipline of Genetics
Room 5340A, HSC
Faculty of Medicine, Memorial University
St. John's, NL, Canada
A1B 3V6

Office:  (709) 777-6100
Lab: (709) 777-6041
Admin (Deborah Quinlan): (709) 777-6807
Fax: (709) 777-7497


Team

Dr. Terry-Lynn Young - co-lead

Dr. Mark Samuels - co-lead

Adjunct Professor - Department of Pathology
http://www.deptmed.umontreal.ca/
 

Dr. Mark Samuels was a Presidential Scholar in the United States in 1975.  He received his A.B. degree summa cum laude in Molecular Biology from Princeton University, and his Ph.D. in Biology from the Massachusetts Institute of Technology where he worked in the laboratory of Prof. Phillip Sharp (Nobel Prize in Medicine in 1993).  Dr. Samuels has studied the molecular mechanisms of cellular function and development for over 20 years, resulting in numerous scientific publications.  He has worked in the fields of basic gene expression, sex-determination in fruit flies, and most recently in the genetics of human disease.  As a molecular geneticist he has participated in novel discoveries of genes involved in cholesterol metabolism, eye development, sensory neuronal function, and hemochromatosis.  Recently he served as Director of Genetics for Xenon Pharmaceuticals, Inc., a Canadian biotechnology company using mammalian genetics as a platform to identify novel therapeutic opportunities.

Dr. Samuels is now Professeur Agrégé in Medicine at the Université de Montréal, and Adjunct Professor in Pathology at Dalhousie University. He is the project leader for the Maritime team of the Atlantic Medical Genetics and Genomics Initiative, a comprehensive research program bringing together clinical and molecular geneticists in the Maritime and the Atlantic Canadian provinces, funded for four years at $9.1 million by Genome Canada and Genome Atlantic. His laboratory in Montreal is studying the molecular biology of ocular disorders and peripheral neuropathies as follow-up to gene discoveries in these areas.

 

 

Dr. Karen Bedard

Dalhousie Pathology

Dr. Bedard is an Assistant Professor in the Department of Pathology studying functional aspects of genetic polymorphisms and mutations.  She completed her PhD in Pharmacology at the Atlantic Veterinary College, and postdoctoral studies at the University of Alberta and at the University of Geneva, in the field of endoplasmic reticulum stress, oxidative stress and NADPH oxidase.  She has experience with molecular and cellular biology, cell and animal based models of disease, functional analysis of haplotype variants, custom SNP panel design and phenotype assessment and functional analysis of candidate genes in genome wide association and linkage analysis studies.

 

 

Dr. Bridget Fernandez

Dr. Jane Green

Dr. Duane Guernsey

Dalhousie Pathology
http://pathology.medicine.dal.ca/

Dr. Guernsey is a Professor in the Departments of Pathology, Ophthalmology & Visual Sciences, Surgery, and Physiology & Biophysics. He is Director of the Division of Molecular Pathology & Molecular Genetics. He has over 80 peer-reviewed publications in the areas of molecular and cell biology and molecular genetics. Dr. Guernsey has been involved in many of the human disease gene discovery projects at Dalhousie.

 

Dr. Mark Ludman 

Dr. Mark Ludman
Head, Division of Medical Genetics
Professor of Pediatrics & Medicine
Dalhousie University

Mark D. Ludman, MD., F.R.C.P.C., F.C.C.M.G., is a clinical geneticist with a particular interest in the genetics of cancer and in inherited metabolic diseases. He is presently a Professor and Head of the Division of Medical Genetics in the Department of Pediatrics, as well as a Professor in the Department of Medicine, in the Faculty of Medicine of Dalhousie University in Halifax, Nova Scotia. He is also the Physician Leader of the Maritime Medical Genetics Service, based at the IWK Health Centre there. He is certified as a specialist in both pediatrics and medical genetics in Canada, the United States and Israel. He is responsible for the medical genetics collections in the Maritimes.

 

Dr. Andrew Orr

Assistant Professor, Department of Ophthalmology
Dalhousie University
http://ophthalmology.medicine.dal.ca/

Dr. Orr has practiced Ophthalmology for over 15 years.  His research interests include monogenic disorders of the eye and other organ systems. He is responsible for clinical recruitment in NS, NB, and PEI.

 

Dr. Pat Parfrey

Dr. Daryl Pullman

Dr. Michael Woods
 

Collaborators (Dalhousie)

Dr. Jason Berman
IWK Health Centre
Hematology

Clinical ascertainment of inherited cancer is the main area of focus of Dr. Berman.


Dr. Alan Cruess
Dalhousie University
Department of Ophthalmology and Visual Sciences

Inherited ocular disorders are main research interest of Dr. Alan Cruess. 


Dr. Stephen Couban
QEII Health Sciences Centre
Dept of Medicine-Hematology

Dr. Couban’s contribution is in clinical ascertainment of potentially inherited cancers.


Dr. Joe Dooley
IWK Health Centre
Head, Pediatric Neurology Division

Dr. Dooley is responsible for clinical ascertainment of inherited neurological disorders.


Dr. Marie-Pierre Dubé
Assistant Professor
University of Montreal
Montreal Heart Institute Research Centre

Dr. Dubé is Assistant Professor at the University of Montreal, and directs the statistical genetic analysis of selected AMGGI projects, via a longstanding scientific collaboration with team members.


Dr. Sarah Dyack
Maritime Medical Genetics
IWK Hospital
1st Floor Link

Dr. Dyack is a staff clinician in Maritime Medical Genetics at the IWK Hospital, and participates in clinical ascertainment of multiple genetic disorders with potential for AMGGI’s gene discovery pipeline.


Conrad V. Fernandez MD,FRCPC
Division of Paediatric Hematology/Oncology
Departments of Pediatrics and Bioethics,
Dalhousie University/IWK Health Centre

Dr. Fernandez is responsible for clinical ascertainment of inherited cancers forms.


Chloe Gottleib, MD
Dalhousie University
Department of Ophthalmology

Clinical ascertainment of inherited ocular disorders is Dr. Gottleib’s main focus.


Dr. Ian A. Grant
Dalhousie University
Department of Medicine – Neurology

Dr. Grant focuses on the clinical ascertainment of inherited neuromuscular disorders.


Dr. Wenda L. Greer
Department of Pathology
Dalhousie University

Dr. Greer is responsible for clinical ascertainment of multiple disorders with potential genetic etiology.


Dr. Thomas Hewlett
Thomas Hewlett Medical Inc.
Renal Unit, Cape Breton Regional Hospital

Dr. Hewlett is focusing on clinical ascertainment of inherited renal disorders.


Dr. Ann Hoskin-Mott
Dalhousie University
Department of Ophthalmology and Visual Sciences

Dr. Hoskin-Mott is responsible for clinical ascertainment of inherited ocular disorders.


Dr. Christie Riddell
Section Head for Molecular Genetics
Department of Laboratory Medicine
IWK Health Centre

Dr. Riddell is head of the IWK molecular diagnostic laboratory, and is involved in clinical ascertainment of multiple disorders with potential genetic etiology.  She will be invited to be part of the socioeconomic benefits committee.


Dr. Johane Robitaille
Assistant Professor
Dept. of Ophthalmology and Visual Sciences Dalhousie University
http://ophthalmology.medicine.dal.ca/people/faculty.cfm?id=87

Dr. Robitaille is responsible for clinical ascertainment of inherited ocular disorders.


Dr. Guy A. Rouleau
CHUM Research Centre

Dr. Rouleau collaborates with AMGGI through clinical ascertainment of inherited neurological disorders


Dr. Chris Skedgel
Research Health Economist
Centre for Clinical Research
Dalhousie University

Dr. Skedgel provides support for GE3LS research component of AMGGI, acting for the Maritime component of the project.


Dr. David Skidmore
Maritime Medical Genetics
IWK Health Centre

Dr. Skidmore is a staff clinician in Maritime Medical Genetics at the IWK Hospital, and participates in clinical ascertainment of genetic disorders.


Dr. Michael West
Dept of Medicine – Nephrology

While focusing on clinical ascertainment of inherited renal disorders, Dr. West also collaborates with the GE3LS team on Fabre’s disease.


Dr. Lyle Weston
Neurology

As a neurologist, Dr. Westin is responsible for clinical ascertainment of inherited neurological disorders.


News

One of the major accomplishments of AMGGI is the development of a diagnostic kit to determine if an individual is susceptible to sudden cardiac death.  The AMGGI team discovered a mutation that was found to be causative for sudden cardiac death, and the diagnostic kit was developed on the basis of this mutation.  Patients can be screened for the mutation with the help of this diagnostic kit, and implantable cardioverter defibrillator (ICD) devices can subsequently be implanted to prevent sudden cardiac death.

The project has also found genetic links to many other diseases, including:

The project has received media attention in Atlantic Canada and around the world, including:

Other highlights from the project include:


Publications

Orr, A. Dubé, M.-P. Marcadier, J. Jiang, H. Federico, A. George, S. Seamone, C. Andrews, D. Dubord, P. Holland, S. Provost, S. Mongrain, V. Evans, S. Higgins, B. Bowman, S., Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy., PLoS ONE 2(8): e685. doi:10.1371, 2007

Guernsey D., Jiang H., Campagna D., Evans S., Ferguson M., Kellogg M., Lachance M., Matsuoka M., Nightingale M., Rideout A., St-Amant L., Schmidt P., Orr A., Bottomley S., Fleming M., Ludman M., Dyack S., Fernandez C., Samuels M., Mutations in mitochondrial carrier family member SLC25A38 cause non-syndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics, 2008

Jiang H., Orr A., Guernsey D., Samuels M., Dube M.P., Application of Homozygosity Haplotype Analysis to Genetic Mapping with High-density SNP Genotype Data. 2009. PLoS ONE

Guernsey D., Jiang H., Evans S., Ferguson M., Matsuoka M., Nightingale M., Rideout A., Provost S., Orr A., Dube M-P., Ludman M., Samuels M, Mutation in Pyrroline 5-carboxylate reductasw gene1 in a large family with cutis laxa type 2. 2009. American Journal of Human Genetics

Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL., Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21.

Mahoney K, Moore SJ, Buckley D, Alam M, Parfrey P, Penney S, Merner N, Hodgkinson K, Young TL., Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A. Seizure. 2009 Sep;18(7):492-7.

Webb MP, Dicks EL, Green JS, Moore SJ, Warden GM, Gamberg JS, Davidson WS, Young TL, Parfrey PS., Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders. Kidney Int. 2009 Jul;76(2):215-23.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL., Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. Eur J Hum Genet. 2009 May;17(5):554-64.

Hodgkinson K, Dicks E, Connors S, Young TL, Parfrey P, Pullman D. Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genet Med. 2009 Dec;11(12):859-65.

Hodgkinson K, Pullman D. Duty to warn and genetic disease. Can J Cardiovasc Nurs. 2010;20(1):12-5.

Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Hodgkinson K, Ludman M, Pullman D. Is gene discovery research or diagnosis? Genet Med. 2008 Jun;10(6):385-90.

Pullman D, Hodgkinson K. Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice. Clin Genet. 2006 Mar;69(3):199-203.

Mark E Samuels*1,4, Rene HM te Morsche2, Mary E Lynch3 and Joost PH Drenth2. Compound heterozygosity in sodium channel Nav 1.7 in a family with hereditary erythermalgia

Samuels ME, Higgins B, Provost S, Marcadier J, Blouin C, Bowman S, and Dube MP, New Technologies in Human Genetic Analysis, American Biotechnology Laboratory, April 2007

Samuels, M., Genetics of Dyslipidemia and Lipoprotein Metabolism, Recent Patents in Cardiovascular Drug Discovery, 2, 195-204, 2007

Samuels, M., de Morsche, R., Lynch, M., Drenth, J., Molecular and clinical studies of a family with hereditary erythermalgia., Molecular Pain 4:21., 2008

Guernsey D., Dubé M-P., Jiang H., Asselin G., Brownell J., Evans S., Ferguson M., MacGillivray C., Marcadier J., Matsuoka M., Nightingale M., Provost S., Rideout A.,  Wallace K., Ludman M., Orr A., Hoskin-Mott A.,  Robitaille J., Samuels M., Mapping of pericentral pigmentary retinal degeneration to the rhodopsin gene in a large Canadian family., American Journal of Human Genetics PLoS, 2008

Guernsey, D.L., Dube, M.-P., Jiang, H., Asselin,G., Blowers, S., Evans, S., Ferguson, M., Macgillivray, C., Matsuoka, M., Nightingale, M., Rideout, A., Delatycki, M., Orr, A., Ludman, M., Dooley, J.,Riddell, C., Samuels, M., Novel mutations in the sacsin gene in ataxia patients from Maritime Canada, Journal of Neurological Sciences Volume 288, Issues 1-2, 15 January 2010, Pages 79-87, 2009

Mark Samuels, PhD; Duane Guernsey, PhD; Marie-Pierre Dube, PhD; Haiyan
Jiang, PhD; Geraldine Asselin; Sarah Blowers; Susan Evans; Meghan Ferguson; Christine
Macgillivray; Makoto Matsuoka; Matthew Nightingale; Andrea Rideout; Martin Delatycki, MD;
Andrew Orr, MD; Mark Ludman, MD; Joe Dooley, MD, Novel mutations in the sacsin gene in ataxia patients from Maritime Canada, Human Mutation, 2008

Valdmanis PN., Dupre N., Lachance M., Belzil VV., Stochmanski SJ., Thiffault I., Brais B., Weston L., Saint-Amant L., Samuels ME., Rouleau GA.,  A mutation in the RNF170 gene causes autosomal dominant sensory ataxia, Annals of Neurology, 2009

Guernsey,DL. G., Jiang, H., Hussin, J., Aronld, M., Bouyakdan,K., Perry,S.,  Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Patry,L., Rideout, A.L.,  Thomas, A., Orr, A.,Hoffman,I.,  Michaud,J., Awadalla,P., Meek, D.C., Ludman, M., Samuels, M.E., Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4, American Journal of Human Genetics;Volume 87, Issue 1, July 2010 pages 40-51, 2009

Guernsey DL., Jiang H., Bedard K., Evans S., Ferguson M., Matsuoka M., Macgillivray C., Nightingale M., Perry S., Rideout AL., Orr A, Ludman M., Skidmore DL., Benstead T., Samuels ME.,  Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease, PLoS Genetics 6(8): e1001081. doi:10.1371/journal.pgen.1001081, 2009

Valdmanis PN., Dupre N., Lachance M., Belzil VV., Stochmanski SJ., Thiffault I., Brais B., Weston L., Saint-Amant L., Samuels ME., Rouleau GA., A mutation in the RNF170 gene causes autosomal dominant sensory ataxia, Brain, 1 (2010) doi: 10.1093/brain/awq329 First published online: November 28, 2010

Brinkman R, Dube M, Rouleau G, Orr A, Samuels M (2006). Human monogenic
disorders - a source of novel drug targets.
Nat Rev Genet 7(4): 249-60.

 


Presentations

Presentations from the project include:

  • Applications of Homozygosity Haplotype in the Study of Human Genetic Diseases with High Density SNP Genotype - presented by Dr. Haiyan Jiang at ISMB 2008 (PowerPoint)
  • Genetic analysis of the human genome from a systems perspective, Poster presentation at 4th International Conference on Pathways, Networks and Systems, Mykonos, Greece, Samuels M., Orr A., Guernsey D., Robitaille J.     
  •  Where the drug targets are: Mice, men and the Mendelian genome., Invited podium presentation, Form & Function in Ocular Disease Meeting, Halifax, NS, 2006, Orr A., Samuels M.    
  • The Atlantic Medical Genetics and Genomics Initiative (AMGGI) Poster presentation, 47th Annual Short Course in Medical and Experimental Mammalian Genetics, Jackson Lab, Bar Harbor, ME, USA, 2006, Orr A., Samuels M.     
  • Towards a better understanding of Oguchi’s disease, Dalhousie Department of Ophthalmology Research Day., Halifax, NS., 2008, Dotchin S., Jiang H., Cruess A., Guernsey D., Orr A.   
  • The Atlantic Medical Genetics and Genomics Initiative: Molecular Characterization of Monogenic Disorders in Atlantic Canada, Human Genome Organization Annual Meeting, Montreal, QC., 2007, Samuels M.,  Young T-L., Fernandez B., Green J.,  Guernsey D.,  Ludman M., Orr A.,  Parfrey P.,  Pullman D., Woods M.   
  • Applications of Homozygosity Haplotype in the Study of Human Genetic Diseases with High Density SNP Genotype,16th Annual International Conference on Intelligent Systems for Molecular Biology, Toronto, ON., 2008, Jiang H., Samuels M., Guernsey D., Orr A.  
  • Familial Cavernous Malformations in the Maritime Provences, Canadian Neurological Sciences Federation meeting. Can J Neurol Sci 2009; 36(3 Suppl 1): S85., Orr AC, Fleetwood IG, MacGillivray C, Blowers S, Guernsey DL and Sadler RM  
  • The Atlantic Medical Genetics and Genomics Initiative, 2009 Gordon Research Conference on Human Genomics.,University of New England Biddeford ME USA July 19-24. 2009, Orr A., Guernsey D., Ludman M., Jiang H., Dube M-P.   
  • Mutations in a novel mitochondrial transporter gene case autosomal recessive congenital sideroblastic anemia,  International BioIron Society Meeting June 7-11, 2009. Porto, Portugal, Bottomley S., Guernsey D., Schmidt P,. Orr A., Ludman M., Fernandez C., Samuels M., Fleming M.   
  • Mutations in a novel mitochondrial transporter gene case autosomal recessive congenital sideroblastic anemia, Porphyrins and Porphyrias June 14-18, 2009. Stockholm, Sweden, Bottomley S., Guernsey D., Schmidt P,. Orr A., Ludman M., Fernandez C., Samuels M., Fleming M.   
  • Genetic Variation in Human Disease : Lessons from AMGGI, Gairdner Foundation 50th Anniversary Symposium Dalhousie University, Halifax, NS, October 2, 2009, Samuels, M.   
  • The Application of Genetic Counselling in the Research Setting, 2009 Canadian Association of Genetic Counsellors., Banff, Alberta, Nov. 11-14, Ferguson, Meghan, Rideout, Andrea L., Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Steele Patricia, Thomas, Aidan, Orr, Andrew, Samuels, Mark, Ludman, Mark   
  • AMGGI Genetics Rounds,  2010 IWK- Maritime Medical Genetics Rounds, Perry S., Guernsey D., Orr A.  
  • The Atlantic Medical Genetics and Genomics Initiative: Maritime Component, 2010    Halifax PROBUS Club, Guernsey, DL   
  • Leveraging the Maritime health care system to ascertain and characterize naturally occurring human mutations.,2010, Dalhousie University Anatomy and Neurobiology Rounds, Perry S., Guernsey,DL., Orr A.   
  • 2010 Dalhousie University Undergraduate Research Day, Black, Coleman; Bedard Karen       
  • Identification and characterization of a novel gene causing primary microcephaly, 2010    American Society of Human Genetics, Samuels, M et al  
  • Leveraging a publically-funded health care system to ascertain and characterize nautrally occurring human mutations.,2010 Canadian College of Medical Geneticists Meeting Halifax, NS Oct 21-23, Orr, Andrew 

GE3LS

An integral component of the AMGGI proposal is the innovative study of the potential impacts of genetic discovery on the provision of health care services, including assessing the wellbeing of patients and families who are affected by genetic conditions and who are the most likely consumers of new genetic technologies. The  GE3LS (Genomics, Ethics, Environment, Economic, Legal and Social Issues) team examines the values, beliefs and practices of physicians and genetic counselors who are the potential providers of genetic services, as well as those of patients, families and communities in which these services are offered. 

The GE3LS team assesses the genetic burden of disease at a variety of levels (personal, community, provincial, federal) and along a number of dimensions (ethical, legal, psychological, sociological, and economic) in a well-defined population. The team includes regional directors of medical diagnostic laboratories as part of the commitment to facilitate knowledge transfer to the health care system.

Some of the GE3LS publications from the AMGGI project include:

Hodgkinson K, Dicks E, Connors S, Young TL, Parfrey P, Pullman D. Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. Genet Med. 2009 Dec;11(12):859-65.

Hodgkinson K, Pullman D. Duty to warn and genetic disease. Can J Cardiovasc Nurs. 2010;20(1):12-5.

Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Hodgkinson K, Ludman M, Pullman D. Is gene discovery research or diagnosis? Genet Med. 2008 Jun;10(6):385-90.

Pullman D, Hodgkinson K. Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice. Clin Genet. 2006 Mar;69(3):199-203.


Partners / Funders

Government of Canada via Genome Canada
Atlantic Canada Opportunities Agency/Atlantic Innovation Fund 
Capital Health
CHU Ste. Justine
Cumberland Eye Care
Dalhousie University

  • Faculty of Medicine
  • Dalhousie Medical Research Foundation

Eastern Health
Glaucoma Research Foundation
IWK Health Centre
Jackson Laboratories
Janeway Children’s Hospital Foundation
Maritime Medical Genetic Services
Marshfield Clinic
Memorial University

  • Faculty of Medicine
  • Faculty of Medicine, Research and Graduate Studies
  • Office of the Vice President

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