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Thursday, September 10, 2015
Friday, September 11, 2015
Saturday, September 12, 2015


Thursday, September 10, 2015
Location TIME EVENT 
Provinces Ballroom/Confederation I 1230-1300 Lunch
  1245 Welcome Remarks
CCMG President - Dr. Gail Graham
CAGC President - Mr. Sajid Merchant
  1300-1345 CCMG & CAGC Keynote address
Chair: Gail Graham THE GENETICS OF CONGENITAL HEART DISEASES: Half a Loaf is Not Enough
Speaker: Dr. Christine E. Seidman, Professor of Genetics and Medicine, Harvard Medical School and director of the Cardiovascular Genetics Center at Brigham and Women's Hospital, Boston

At the end of the session, the participants will be able to:
  • Understand the role of genetics in congenital heart disease.
  • Appreciate the pleiotropic developmental consequences of congenital heart disease mutations.
  • Understand how congenital heart disease mutations can help to stratify patients at risk for other medical issues.
  1335-1345 Q & A Session
  1345-1415 Founders Award Presentation
Provinces & Foyer 1415-1445 Refreshment Break
Provinces Ballroom 1445-1615 CCMG TRAINEES PLATFORM PRESENTATIONS- Selected abstracts
Chair: Dr. Malgorzata Nowaczyk, Associate Professor, McMaster University

Dr. Chelsea Lowther - Exonic and intronic NRXN1 deletions: novel genotype-phenotype correlations
  1455-1500 Q&A
Clinical Genetics
Dr. Stephen Lincoln - Clinical actionability of multi-gene panel tests for hereditary breast and ovarian cancer (HBOC)
  1510-1515 Q&A
Molecular Genetics
Dr. Carl Ernst - THE INVESTICATE project: Identification of New Variation, Establishment of Stem cells, and TIssue Collection Advancing Treatment Efforts
  1525-1530 Q&A
Clinical Genetics
Dr. Melissa Carter
- Delineating the phenotypes associated with the 15q11.2 BP1-BP2 deletion: Preliminary trends in psychometric evaluation

  1540-1545 Q&A
Clinical Genetics
Dr. Peter Kannu - Mutations preventing regulated exon skipping of a receptor tyrosine kinase cause a developmental disorder of osteogenesis
  1555-1600 Q&A
Clinical Genetics
Dr. M Stephen Meyn - Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children
  1610-1615 Q&A
Provinces Ballroom 1615-1700 CCMG Annual General Meeting
Govenor General & Foyer 1700-1900 Poster Presentations - To view 2015 CCMG book of abstracts click here
Interactive session with the authors of poster presentations
Size:  Maximum dimensions – 3’10” x 3’10”
Set-up: Thurs., Sept. 10 from 1200 - 1700
Display Time: Thurs., Sept. 10 at 1700 - Sat. Sept. 12 at 1030
Dedicated Poster Viewing Time: Thurs., Sept. 10 from 1700 - 1900
Tear Down: Sat., Sept. 12 at 1030

If you are not the person who will present this poster onsite at the Conference please let us know ASAP – we will adjust our records and future communications will be sent to the replacement presenter.
Govenor General Ballroom & Foyer 1730-2000 Welcome Reception
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Friday, September 11, 2015
British Columbia 0700-0800 MYRIAD logoMyriad Genetics Canada - Industry Sponsored Breakfast

Karla R. Bowles, PhD, FACMG, Senior Laboratory Director, Myriad Genetics - The Advancement of Hereditary Cancer Testing

Description: Significant advances in genetic testing technologies have resulted in hereditary cancer testing transitioning from single gene or small gene panel testing to the analysis of more comprehensive gene panels, leading to a significant increase in the identification of individuals carrying pathogenic mutations requiring modified medical management.  This transition has also posed a challenge for clinical laboratories and healthcare providers due to the increasing complexities of test design and interpretation.  We will discuss the key components of hereditary cancer panel design, the complexities of variant interpretation and the reporting of panel test results, and our laboratory’s experience with panel testing.
Quebec 0700-0800

AthenaAthena Diagnostics - Industry Sponsored Breakfast

Susan Hahn
Epilepsy: Improving diagnosis and treatment through next generation sequencing and robust variant science

At the completion of this session, the attendee should be able to:

  • Describe the various types of epilepsy
  • Discuss how genetic testing can facilitate diagnosis and management of epilepsy
  • Describe factors that impact the quality and accuracy of variant analysis
Govenor General Ballroom 0700-0830 Light Breakfast with the Exhibitors
Provinces Ballroom/Confederation I 0830-1200 Symposium 1 - Theme
  0830-0855 Lauren Higgins: Enhancing Infant Hearing Screening in Ontario: Screening Newborn Dried Blood Spots for Congenital Cytomegalovirus (cCMV)

At the end of the session, the participants will be able to:
  • Describe four limitations of Early Hearing Detection and Intervention (EHDI) programs
  • Discuss how CMV screening of newborn dried blood spots can improve the ascertainment of infants at risk for permanent hearing loss
  • Summarize the challenges and special considerations of designing and delivering an integrated system for hearing screening in Ontario
  0855-0905 Q & A Session
  0905-0930 Janet Marcadier: Evaluation of Diseases Currently Tested and Proposed in Newborn Screening

At the end of the session, the participants will be able to:
  • Describe the development of a process for the nomination of a condition as a target for newborn screening and review of existing newborn screening disorders
  • Summarize the review of Severe Combined Immunodeficiency and Phenylketonuria.
  • Discuss ways to improve the review processes.
  0930-0940 Q & A Session
  0940-1005 Stuart Nicholls: Removing conditions from newborn screening panels: ethical considerations

At the end of the session, the participants will be able to:
  • Discuss the interplay between values and evidence in screening policys
  • Explore examples where we might consider removal.
  • Discuss key socio-ethical issues in screening policy decisions to remove conditions from newborn screening panels .
  1005-1015 Q & A Session
Govenor General Ballroom 1015-1045 Refreshment Break with the Exhibitors
 Provinces Ballroom/Confederation I 1045-1110 Christine Davies: Sickle cell carrier results from newborn screening

At the end of the session, the participants will be able to:
  • Outline the rationale and process of newborn screening for sickle cell disease
  • Illustrate how stakeholder research can be used in the context of health policy development
  • Summarize parental uptake after a choice-based results model is implemented
  1110-1120 Q & A Session
  1120-1150 Pranesh Chakraborty – The future of Newborn Screening

At the end of the session, the participants will be able to:
  • Describe the current state of newborn screening
  • Discuss the factors that are causing change in the practice of newborn screening
  • Discuss the new paradigms that are emerging as a result of these factors
  1150-1200 Q & A Session
Govenor General Ballroom 1200-1330 Lunch with Exhibitors
CCMG ORAL PRESENTATIONS - Cardiovascular Genetics
Provinces Ballroom 1330-1700 Chair: Dr. Sarah Bowdin
  1330-1405 Dr. Christine E. Seidman -Human Cardiomyopathies: From Mutations to Mechanisms

At the end of the session, the participants will be able to:
  • Describe the genetic etiologies of hypertrophic and dilated cardiomyopathy.
  • Discuss mechanisms by which genetic cardiomyopathies alter heart function
  • Summarize the application of clinical genetic testing in cardiomyopathy patients.
  1405-1415 Q & A Session
  1415-1450 Dr. Julie Richer -Connective tissue disorders with cardiac involvement

At the end of the session, the participants will be able to:
  • List at least 4 different diagnosis for familial thoracic aneurysms.
  • Briefly describes the clinical features differentiating Marfan, Loyes-Dietz syndrome, vascular EDS and FTAAD.
  • Appreciate the important implications of a correct diagnosis in regards to management.
  • Appreciate the evolving landscape in regards to the prognosis of vascular EDS.
  1450-1500 Q & A Session
Govenor General Ballroom 1500-1530 Refreshment Break with the Exhibitors
  1530-1605 Christina Honeywell and Julie Rutberg - Inherited Arrhythmias

At the end of the session, the participants will be able to:
  • Appraise methods of genetic and cardiac risk stratification and consider how this affects patient care.
  • Apply concepts about the psychological burden of inherited arrhythmia conditions to genetic counselling of affected and pre-symptomatic patients.
  • Recognize the overlap between inherited arrhythymia syndromes and cardiomyopathies previously thought to be distinct.
  1605-1615 Q & A Session
  1615-1650 Dr. Mona Nemer -Molecular Mechanisms of Valvuloseptal defects

At the end of the session, the participants will be able to:
  • Acquire knowledge on the genetics of valvuloseptal defects.
  • Interpret the variable expressivity of familial congenital heart disease.
  • Predict cardiovascular risk factors in healthy young.
  1650-1700 Q & A Session
1700-1815 BREAKOUT SESSION 1 - Clinical, Metabolic, IEM
    Co-Moderators: Drs. Roberto Mendoza and Matthew Lines

At the end of the session, the participants will be able to:
  • Recognize rare clinical disorders of difficult diagnosis.
  • Evaluate the utility of new diagnostic techniques in the assessment of patients with rare disorders including whole exome and whole genome sequencing.
  • Review the value of a complete phenotypic assessment and integration of genotype and phenotype data.
  • Review strategies for follow-up of abnormal biochemical investigations.
  1815-1830 Q & A Session
Alberta 1700-1815 BREAKOUT SESSION 2 - Molecular Genetics/WES
    Co-Moderators: Drs. Dennis Bullman and Olga Jarinova

At the end of the session, the participants will be able to:
  • Review efficiencies and challenges of new molecular tests.
  • Evaluate different approaches to common challenges.
  • Formulate and debate acceptable solutions.
Q & A Session
Provinces Ballroom 1700-1815 BREAKOUT SESSION 3 - Cytogenetics/aCGH
    Co-Moderators: Drs. Marsha Speevak and Melanie Beaulieu Bergeron

At the end of the session, the participants will be able to:
  • Evaluate the criteria for reporting small CNVs.
  • Evaluate the clinical utility of microarrays in the setting of hematological disorders.
  • Review the value of testing for structural anomalies by traditional cytogenetic means.
  • Review strategies for follow-up of small or challenging CNVs.
  1815-1830 Q & A Session
Govenor General Ballroom 1830-1930 Wine & Cheese Reception
Empire Restaurant
2000-2230 Banquet (formerly Founder’s Dinner) - Empire Restaurant, 47 Clarence Street, Ottawa ON
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Saturday, September 12, 2015
Quebec 0700-0830 InvitaeInvitae - Industry Sponsored Breakfast

Raluca N. Kurz, MS, LCGC, Invitae
- Simplifying the genetic testing process

Description: In this educational session, Raluca N. Kurz, MS, LCGC will discuss a recent study exploring patient perceptions of genetic testing as well as several clinical case studies. Come learn how Invitae is simplifying genetic testing by offering the right genes, at the right price, from a single lab.
Govenor General Ballroom 0700-0830 Light Breakfast with Exhibitors


Provinces Ballroom/Confederation I 0830-1300 Symposium 2 -Chair: Dr. Sarah Nikkel
  0830-0905 Dr. Sheila Unger - The 2015 Skeletal Dysplasia Nosology and Guide to Diagnosis

At the end of the session, the participants will be able to:

  • Assess xrays for features of skeletal dysplasias
  • Organize appropriate investigations for short stature
  • Differentiate different groups of skeletal dysplasias
  0905-0915 Q & A Session
  0915-0950 Dr. Roberto Mendoza - Molecular regulation of bone mineral density.  Lessons from osteopetrosis and OI pave the way to novel treatments.

At the end of the session, the participants will be able to:
  • Discuss the elements that determine bone mineralization and strength.
  • Differentiate and contrast the genes that result in bone fragility when mutated.
  • Contrast syndromic forms of altered bone mineral density that result in osteopetrosis and osteopenia.
  • Distinguish molecular pathways that can be the target of therapeutic interventions to improve bone mineral density.
  • Compare current and in-development treatments to manage disorders of bone mineralization.
  0950-1000 Q & A Session
Govenor General Ballroom 1000-1030 Refreshment Break with Exhibitors
Provinces Ballroom/Confederation I 1030-1105 Chair: Dr. David Chitayat

Dr. Andrea Superti-Furga - From X-rays to X-omes
At the end of the workshop the participants will be able to:
  • List indication for genetic testing.
  • Explain criteria for the choice of testing.
  • Summarize advantages and disadvantages of testing modalities.
  • Discuss the evolution of diagnostic possibilities.
  • Explain the importance of clinical and radiographic data.
  1105-1115 Q & A Session 
  1115-1150 Dr. Philippe Campeau - Skeletal Dysplasias associated with Glycosaminoglycan Defects

At the end of the session, the participants will be able to:
  • Discuss some of the enzymatic processes in glycosaminoglycan biosynthesis.
  • Name three glycosaminoglycan biosynthesis defects and their main clinical features.
  • Describe the differential diagnosis of glycosaminoglycan biosynthesis defects.
  1150-1200 Q & A Session
  1200-1235 Dr. Sarah Nikkel - Little People Associations and the Variability of the Role of the Medical Geneticists by Region

At the end of the workshop the participants will be able to:
  • Compare the needs of different Little People groups.
  • Summarize the role of the Medical Geneticist in support groups.
  • Summarize the importance of support groups for individuals who have rare conditions.   
  1235-1250 Q & A Session 
Governor General Ballroom 1250-1300 Closing Remarks
Quebec & Foyer 1315 Pick up Box Lunch - Delegates may go to the room of their choosing.   Presenters will move between the session rooms
Ontario 1315-1400 &
Session 1: Drs. Jean McGowan-Jordan and Elena Kolomietz - Workshop on Chromosomal Microarray analysis

At the end of the session, the participants will be able to:
  • Describe the microarray guidelines for interpreting and reporting CNV’s
  • Describe the online resources for CNV interpretation of Database of Genomic Variants; UCSC Genome Browser; ISCA; and DECIPHER
  1400-1415 &
Q & A Session
Les Saisons 1315-1400 &
Session 2: Drs. Sarah Sawyer and David Dyment - Workshop on Exome/Genome Sequencing

At the end of the session, the participants will be able to:
  • List advantages of whole exome sequencing (WES) in discovery of a genetic cause of human rare disorders.
  • Summarize components/tools of a bioinformatics WES pipeline.
  • Visualize Illumina read alignments and variants using Genome Visualization Tools such as IGV.
  • Determine frequency of the discovered variants using the available population databases, such as dbSMP and EVS.
  • Assess impact of rare/novel variants on function of the corresponding proteins using multiple prediction tools.
  • Find relationships between genes and phenotypes (if time permits).
  1400-1415 &
Q & A Session 
Newfoundland 1500-1700 CCMG Board Meeting
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46th Annual Scientific Meeting - June 6-9, 2022 - Presented Virtually