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2014 Scientific Program

Scientific Program

Download a copy of the complete CCMG Program here - PDF

Thursday, November 6, 2014
Friday, November 7, 2014
Saturday, November 8, 2014

 

Wednesday, November 5, 2014 - CAGC Abstracts (click here)
Thursday, November 6, 2014
Location TIME EVENT 

LUNCH AND KEYNOTE ADDRESS

Plaza Ballroom 1230-1315

Lunch

  1300

Welcome Remarks
CCMG President - Dr. Marsha Speevak
CAGC President - Ms. Catriona Hippman

  1315-1400

CCMG & CAGC Keynote address :  The Genetics of Cortical Malformation

The past decade has seen rapid advances in the genetic basis of several different classes of brain malformations as well as disorders with similar phenotypes but apparently normal brain imaging. Disorders of forebrain development may present as holoprosencephaly (9+ genes) or agenesis-hypogenesis of the corpus callosum (8+ genes). Disorders of mid-hindbrain development include pontocerebellar hypoplasia (4+ genes), diffuse cerebellar hypoplasia (4+ genes), Dandy-Walker malformation (3+ genes), or the molar tooth-cilia dysfunction group (10+ genes). The first genes for severe congenital microcephaly (6+ genes), severe postnatal microcephaly (3+ genes) and megalencephaly (4+ genes) are known. Several genes associated with specific cortical malformations such as lissencephaly (6+ genes) periventricular heterotopia (2+ genes), polymicrogyria (6+ genes) and cobblestone malformations (9+ genes) are known. Importantly, mutations of some of these genes may present with more than one malformation or as developmental encephalopathies (Angelman or Rett-like) with apparently normal brain structures, such as ARX and SHANK3. Similarly, mutations of some genes known primarily as developmental encephalopathies may be associated with brain malformations, with FOXG1 and MECP2 as examples.

Speaker:  Dr. William Dobyns, Professor, Center for Integrative Brain Research, Seattle Children’s Hospital, Seattle WA USA

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

  1. Describe the most common human brain malformations and related severe developmental disorders
  2. Discuss the known causal genes associated with each
  3. Describe genotype-phenotype correlations
  1400-1415 Q & A Session 
Plaza Foyer 1415-1430 Refreshment Break
Plaza Ballroom 1430-1600

CCMG TRAINEES PLATFORM PRESENTATIONS- Selected abstracts

Chair: Dr. Patrice Eydoux, Clinical Professor, Department of Pathology and Laboratory Medicine, University of British Columbia, Children’s and Women’s Health Centre of British Columbia, Vancouver BC Canada

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

  1. Evaluate and validate different educational tools in residency training for learning and assessment
  2. Identify new findings and techniques in genetic diagnosis impacting on prognostication and patient care
  3. Identify new biomarkers or molecular signatures as tools for diagnosis and or prognosis
  4. Assess the significance of new findings and observations in the context of current literature
  1430 - 1440

Next-generation sequencing in the neonatal intensive care unit: pilot data from 12 newborns
Stephanie M. Luco, Trainee
Clinical Genetics
  1440 - 1445 Q&A
  1445 - 1455
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A   
Lucas Bronicki, Trainee

Clinical Genetics
  1455 - 1500 Q&A
  1500 - 1510
Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown etiology
Sarah Buerki, Trainee
Cytogenetics/Microarray
  1510 - 1515 Q&A
  1515 - 1525
Use of prenatal array comparative genomic hybridization in cases of fetal structural cardiac anomalies:  New cases and review of the literature
Joanna Lazier, Trainee
Clinical Genetics
  1525-1530 Q&A
  1530 - 1540
Congenital sucrase-isomaltase deficiency: identification of the common Inuit founder mutation
Julien Marcadier,
Trainee
Clinical Genetics
  1540 - 1545 Q&A
  1545 - 1555
Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition
Catalina Maftei
, Trainee
Clinical Genetics
  1555 - 1600 Q&A
Plaza Ballroom 1600-1700 CCMG Annual General Meeting
Georgia Ballroom/Foyer 1700-1900

Poster Presentations - To view CCMG book of abstracts click here
Interactive session with the authors of poster presentations

POSTER PRESENTATION DETAILS:
Size:  Maximum dimensions – 3’10” x 3’10”
Set-up: Thursday, November 6, 2014 from 1200 - 1700
Display Time: Thursday, November 6, 2014 at 1700 - Saturday, November 8 at 1030
Dedicated Poster Viewing Time: Thursday, November 6, 2014 from 1700 - 1900
Tear Down: Saturday, November 8, 2014 at 1030

REPLACEMENT PRESENTER:
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.

Georgia Ballroom/Foyer 1700-2000 Welcome Reception
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Friday, November 7
Georgia Ballroom/Foyer 0700-0830

Light Breakfast with the Exhibitors

CACG-CCGM JOINT SYMPOSIUM - ORGANISED BY CAGC

Plaza Ballroom 0830-1200 Symposium 1 - Personalized Oncogenomics
Plaza Ballroom 0830-0905

Ethical Implications of Whole Genome Sequencing for Oncology Patients

The use of genomic technology is increasing in the management of oncology patients.   At the B.C. Cancer Agency, there is a trial using whole genome sequencing to aid in the management of oncology patients. However, there are ethical implications given the data generated from technology that may have genetic implications in terms of incidental findings and counseling. A framework is needed to provide guidance with respect to these issues. The symposium will be of value to medical oncologists, geneticists and genetic counsellors.

Speaker: Dr. Howard Lim, Physician, Department of Medical Oncology, BC Cancer Agency, Vancouver BC Canada

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

  1. Identify Ethical Issues pertaining to whole genome sequencing
  2. Discuss a framework to deal with the issues
  3. Describe the whole sequencing in the management of oncology patients

Personalized OncoGenomics: Sequencing for Cancer Diagnosis and Treatment Planning

An overview of the Personalized OncoGenomic project will be presented.  The focus will be on lessons learned and feasibility of this approach in clinical setting.  In particular, the challenges of interpreting the complex WGS and RNAseq data, deliver these data back to the treating clinicians and the feasibility of utilizing these information in clinical practice with the discussed.  The symposium will be of value to physicians, oncologists, genetic counselors and geneticists.

Speaker: Dr. Janessa Laskin, Medical Oncologist, Department of Medical Oncology, BC Cancer Agency, Vancouver BC Canad

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

  1. Describe the Personalized OncoGenomics program in BC Cancer Agency
  2. Identify the challenges of interpreting the complex WGS and RNAseq data generated from this approach.
  3. Discuss the feasibility of utilizing the WGS in Oncology practice
  0905-0915

Q & A Session

  0915-0950

Cancer genomics and its impact on prevention and treatment strategies

Speaker:  Dr. David Huntsman, Professor, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC Canada

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

  1. Define the types of discoveries that been forthcoming from large scale genomics projects
  2. Describe the relative importance of inter and intra tumoral heterogeneity in determining optimal management strategies
  3. Identify the translational approaches and challenges for effective knowledge transfer
  4. Consider why new prevention strategies require a rethink of genetics practice models 


  0950-1000

Q & A Session

Georgia Ballroom/Foyer 1000-1030 Refreshment Break with the Exhibitors
Plaza Ballroom 1030-1105

A Time of Transition: Clinical Experience with Multi-Gene Hereditary Cancer Testing Panels

With the availability of multi-gene hereditary cancer testing panels, genetic testing strategies for hereditary cancer risk assessment have started to change in recent years. This symposium will assess background information and research relating to multi-gene hereditary cancer testing panels, factors to consider with various panel testing options, and will illustrate case examples of cancer risk assessment with panel testing results. The symposium will be of value to clinical/medical geneticists, molecular geneticists, genetic counselors and other healthcare providers who are involved with hereditary cancer risk assessment.

Speaker: Christine Kobelka, MSc, CGC, CCGC

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

  1. Identify the benefits and limitations of multi-gene hereditary cancer testing panels in family history assessment
  2. Recognize applications for various types of multi-gene hereditary cancer panels
  3. Interpret multi-gene hereditary cancer testing panel results for the purposes of cancer risk managements and family member testing
  1105-1115

Q & A Session

  1115-1150

Pancreatic Adenocarcinoma Genetics

Speaker: Spring Holter, MSc, CGC, CCGC, Researcher, Mount Sinai Medical Center

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

  1. Identify and understand the known genetic causes of pancreatic adenocarcinoma
  2. Describe the treatment implications of gene mutation in the treatment of pancreatic adenocarcinoma
  3. Identify current status of gene discovery for familial pancreatic cancer
  1150-1200 Q & A Session
Georgia Ballroom/Foyer 1200-1330

Lunch with Exhibitors

CCMG ORAL PRESENTATIONS - ANIMAL MODELS OF HUMAN DISEASES

Plaza Ballroom 1330-1545

Chair: Dr. Sarah Dyack, Division Head Maritime Medical Genetics Services, IWK Health Centre, Department of Pediatrics, Dalhousie University, Halifax NS Canada

  1330-1405 Nonsense Suppression Therapy in Model Systems – New Therapeutic Options for Congenital Ocular Diseases

The symposium is on the use of animal models for studying human disease. My contribution to this will be explaining how I have used both zebrafish and mouse models to study inherited eye disorders. In particular I will focus on the development of novel therapeutic approaches for congenital malformations caused by a specific type of mutation, in-frame nonsense mutations. My talk will be of value to medical geneticists, genetic counsellors, paediatric and medical genetic residents.

Speaker:  Dr. Cheryl Gregory-Evans, Associate Professor, Department of Ophthalmology, University of British Columbia, Vancouver BC Canada

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

  1. Recognize common ocular malformation defects.
  2. Explain the general concept of nonsense suppression therapy for inherited disease.
  3. Consider the implications for moving nonsense suppression from bench-to-bedside.
  1405-1415

Q & A Session

  1415-1450

Formation and Malformation of the Vertebrate Body: the Importance of Regulated Proliferation

How the vertebrate body forms from a small set of pluripotent stem cells is one of the major mysteries in biology. Zebrafish is an excellent system for studying this process since many aspects of embryogenesis are conserved among all vertebrates, yet zebrafish have the advantages that the embryos develop ex utero, they are produced in large numbers, they are a good genetic system, and they are optically transparent. In this presentation, zebrafish are used to understand the mechanisms that form the early body of the embryo, particularly the musculature and spinal cord, which we have discovered arise from an early bipotential cell precursor. Surprisingly, the proliferation of these precursors is tightly regulated, and I will show how alteration of the normal proliferation causes severe defects in forming the early embryo through the regulation of progenitor gene expression. This symposium will be of value to anyone interested in the use of zebrafish as a model system for development and disease, and interested in understanding the mechanisms that form the early vertebrate embryo.

Speaker:  Dr. David Kimelman, Professor of Biochemistry, Research Affiliate, Center on Human Development and Disability, University of Washington, Seattle WA USA

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

  1. Describe why zebrafish is a valuable model organism for understanding human biology.
  2. Describe how multipotent progenitors are regulated by intercellular signaling in order to form the spinal cord and musculature of the vertebrate body.
  3. Describe how proliferation of the multipotent progenitors is precisely regulated in order to form the normal vertebrate body.
  1450-1500

Q & A Session

  1500-1535

Pleiades MiniPromoters for Viral-Based Gene Therapy

Speaker:  Dr. Elizabeth Simpson, Senior Scientist, Centre for Molecular Medicine and Therapeutics at CFRI, Professor, Department of Medical Genetics University of British Columbia, Vancouver BC

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

  1. Describe the evolution of the gene therapy field.
  2. Discuss the application of the human genome to new therapeutic strategies
  3. Read critically the literature on viral-based gene therapy.


  1535-1545

Q & A Session

Georgia Ballroom/Foyer 1545-1615

Refreshment Break with the Exhibitors

BREAK OUT SESSIONS

Plaza A   1615-1745

BREAKOUT SESSION 1

   

Clinical Breakout: Clinical, Metabolic, IEM

Moderator:  Dr. William Gibson, Associate Professor, Department of Medical genetics, University of British Columbia, Vancouver BC Canada

Speaker: Robert M. Stowe, MD, FRCPC, UCNS Diplomate in Behavioral Neurology and Neuropsychiatry Clinical Professor of Psychiatry and Medicine (Neurology) University of British Columbia

At the end of this session, candidates will be able to:

  1. Understand the utility of hypothesis-driven research-grade testing followed by targeted clinical testing to solve undiagnosed genetic disorders
  2. Increase their knowledge of the phenotypic spectrum of various genetic diseases
  3. Enhance local, national and international collaborations
  4. Compare diagnostic approaches and algorithms

Genomic Medicine in Primary Care

Dr. Judith Allanson, Clinical Geneticist, Department of Genetics, CHEO, Professor, Department of Genetics, Faculty of Medicine, University of Ottawa, Ottawa ON Canada

Unknowns and Interesting Cases

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

  1. Identify the challenges associated with integration of genomics into primary care.
  2. Select the types of educational materials that family physicians find useful.
  3. Consider the resources needed to integrate genomic medicine into primary care practice
  1745-1800

Q & A Session

Plaza B  1615-1745

BREAKOUT SESSION 2

   

Molecular Genetics

Moderator:  Dr. Tanya Nelson, Clinical Professor, Children’s & Women’s Health Centre of BC, Vancouver BC Canada

Interesting Cases in Molecular Diagnostics

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

  1. summarize potential issues with current diagnostic technologies.
  2. explain unique biological differences which may affect testing results or interpretations.
  3. evaluate different approaches for troubleshooting unexplained test results.
  1745-1800

Q & A Session

Plaza C  1615-1745

BREAKOUT SESSION 3

   

Cytogenetics/aCGH/WES

Moderator: Dr. Patrice Eydoux, Clinical Professor, Department of Pathology and Laboratory Medicine, University of British Columbia, Children’s and Women’s Health Centre of British Columbia, Vancouver BC Canada

Title: Cytogenetics/Chromosome Microarray Analysis

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

  1. Describe and interpret potential issues related to chromosome micro-array analysis
  2. Share experiences with different platforms
  3. Compare reporting strategies.
  1745-1800

Q & A Session

Georgia Ballroom/Foyer 1800-1900

Wine & Cheese Reception

Offsite 1930-2200

The Gala (Founder’s Dinner) will be at Dockside Restaurant on Friday November 7, 2014 from 19:30 – 22:00. There will be a bus from the hotel to the restaurant at 19:00. The address is 1253 Johnston Street (Granville Island) Vancouver B.C. V6H 3R9.  

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Saturday, November 8
Georgia Ballroom/Foyer 0700-0830 Light Breakfast with Exhibitors

CACG-CCGM JOINT SYMPOSIUM - ORGANISED BY CCMG

Plaza Ballroom 0830-1300 Symposium 2
  0830-0905

Chair: Dr. Evica Rajcan-Separovic, Associate Professor, Department of Pathology, University of British Columbia, BC Children’s Hospital, Department of Pathology, Cytogentics Laboratory, Vancouver BC

The Genetics of Epigenetics in Cognitive Disorders

Cognitive disorders (CDs) are a heterogeneous group of disorders for which the genetic foundations are rapidly being uncovered. The large number of CO-associated gene mutations presents an opportunity to identify common mechanisms of disease as well as molecular processes that are of key importance to human cognition. Given the disproportionately high number  of epigenetic genes associated with CD, epigenetic regulation  of gene transcription is emerging as a process of major importance in cognition. Epigenetic regulatory complexes involving multiple CD genes provide an excellent tool for fundamental research into the epigenetic mechanisms underlying learning and memory. Our research is focused on the elucidation of the role of an epigenetic module involving euchromatic histone methyltransferase 1(EHMTl) and other proteins underlying a recognizable CD, denoted Kleefstra syndrome. Manipulation of this epigenetic module in model organisms such as Drosophila melanogaster and mice has revealed an important role in dendritic branching, synaptic morphology and plasticity across species.

Speaker:  Dr. Hans van Bokhoven, Head Molecular Neurogenetics, Department of Human Genetics 855 &Department of Cognitive Neuroscineces 126, Donders Institute for Brian, Cognition and Behavior, Raboud University Medical center, Nijmegen Netherlands

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

  1. Name three general processes that affect epigenetic modifications.
  2. Describe three types of epigenetic modifications an, for each of these, provide at least one example of disruption of such modification in a cognitive disorder.
  3. Describe how epigenetic modifications are involved in the transfer of an external stimulus to synaptic activity.
  0905-0915

Q & A Session

  0915-0950

The Genetics of Parkinson Disease

The seminar will provide an update on genetic analysis in Parkinson’s disease, highlighting the clinical and research utility of those findings, and how those insights are informing therapeutic development. The studies described will focus on alpha-synuclein expression and pathology, as immuno-positive intracellular aggregates and nigral neuronal loss are required for a definitive diagnosis. The talk will point out past caveats, and future needs. The symposium will be of value to pathology residents, PAs, general and anatomic pathologists, clinical neurologists, clinician scientists and neuroscience researchers.

Speaker:  Dr. Matthew Farrer, Professor, Department of Medical Genetics, University of British Columbia, Vancouver BC Canada

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

  1. Describe the relative contributions of genetic analysis approaches to familial and idiopathic Parkinson's disease
  2. Define the frequency and penetrance of major gene mutations leading to disease
  3. Detail the molecular pathways involved, and some opportunities for novel therapeutic development
  0950-1000

Q & A Session

Georgia Ballroom/Foyer 1000-1030

Refreshment Break with Exhibitors

Plaza Ballroom 1030-1105

Chair: Dr. David Chitayat, Staff Physician, Clinical and Metabolic Genetics, The Hospital for Sick Children, Mount Sinai Hospital, Prenatal Diagnosis & Medical Genetics Program, Dept. of Obstetrics & Gynecology Toronto ON Canada

Is Intellectual Disability Really a Multifactorial Disorder?

Speaker:  Dr. Jan Friedman, Professor, Medical Genetics, University of British Columbia, Vancouver BC Canada

At the end of the workshop the participants will be able to:

  1. Describe the evidence that intellectual disability is a multifactorial disorder.
  2. Explain how recent genomic studies have provided a reinterpretation of the multifactorial nature of intellectual disability and autism.
  1105-1115

Q & A Session 

  1115-1150

The Ever Expanding Spectrum of Genotypes and Phenotypes of Warburg Syndrome and Other Dystroglycanopathies

Speaker:  Dr. Hans van Bokhoven, Professor, Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Nijmegen Netherlands

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

  1. Explain why mutations in at least 15 genes can underlie the same rare disorder Walker­ Warburg syndrome.
  2. Describe the design and crucial elements of a Lassavirus screen for the identification of genes underlying Walker-Warburg syndrome.
  3. Explain the nature of genotype-phenotype correlations in dystroglycanopathies and cite at least one exception to such correlations.


  1150-1200

Q & A Session

  1200-1230

The Genetics of Epilepsy

Speaker:  Dr. Berge Minassian, Staff Neurologist, Neurology, The Hospital for Sick Children, Toronto ON Canada

At the end of the workshop the participants will be able to:

  1. Describe the role of brain development in genetic epilepsies
  2. Review of the genetic epilepsies
  3. Review and update on the genetics of epilepsy
  1230-1245

Q & A Session 

Plaza Ballroom 1245-1300

Closing Remarks

BOX LUNCH AND AFTERNOON SESSION

Plaza Hallway 1315

Pick up Box Lunch

Plaza AB / Plaza C 1315-1435

Workshop on the Interpretation of Genomic Variants from Chromosomal Microarray and Exome Sequencing

Delegates may go to the room of their choosing.

Dr. Wyeth Wasserman, Professor, Department of Medical Genetics, University of British Columbia, Senior Scientist, Centre for Molecular Medicine and Therapeutics at CFRI, Vancouver BC Canada
Dr. Clara van Karnebeek, MD PhD, Assistant Professor of Pediatrics, Associate Scientist, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver CA

Dr. Maja Tarailo-Graovac, Research Associate, Centre for Molecular Medicine & Therapeutics, Vancouver BC

Exome Sequencing

Rapid advance of next-generation sequencing technologies have accelerated new gene discoveries in patients with rare disease. The workshop will start with an introduction to TIDEX, a successful application of WES analysis to discover genetic causes of rare human disorders. The workshop has been designed to introduce the participants to key components of a bioinformatics pipeline required to understand the principles behind the WES analysis. Participants will gain experience in assessing quality of the identified variants, frequency in “general” population, prioritizing the variants based on predicted effects on protein function and integration of prioritized list of variants with clinical data. This introductory workshop will be of value to: clinical researchers, genetic counselors, research scientists, post-doctoral fellows, and graduate students interested in clinical genomics research projects with particular focus on rare disease.

  1. Each participant will need to bring their own laptop.
  2. Before the workshop, each participant will download a freely available version of a genome viewer:  IGV (Integrative Genomics Viewer)
    • http://www.broadinstitute.org/igv/
  3. Before the workshop, each participant will need to download a handout and a set of .bam and .bai files that will be available from the Symposium’s website by the end of October.
  4. During the workshop, sites to be used:
    • http://evs.gs.washington.edu/EVS/
    • http://www.ncbi.nlm.nih.gov/projects/SNP/
    • http://provean.jcvi.org/genome_submit_2.php
    • http://genetics.bwh.harvard.edu/pph2/
    • http://www.ensembl.org/index.html
  5. If time permits also:
    • http://cbdm.mdc-berlin.de/~medlineranker/cms/genie
    • http://meshop.oicr.on.ca/meshop/index.html

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

  1. List advantages of whole exome sequencing (WES) in discovery of a genetic cause of human rare disorders.
  2. Summarize components/tools of a bioinformatics WES pipeline.
  3. Visualize Illumina read alignments and variants using Genome Visualization Tools such as IGV.
  4. Determine frequency of the discovered variants using the available population databases, such as dbSNP and EVS.
  5. Assess impact of rare/novel variants on function of the corresponding proteins using multiple prediction tools.
  6. Find relationships between genes and phenotypes (if time permits).

Workshop Activities:
13:00 – 13:20
1)    TIDEX – Using Whole Exome Sequencing (WES) to identify genetic cause of rare disorders
2)    Overview of a WES bioinformatics pipeline
3)    Case presentation – Girl with Menkes Disease-like phenotype

13:20 – 13:50
1)    Visualize Illumina read alignments and variants using IGV (Integrative Genomics Viewer)
2)    Supported mode of inheritance.
3)    Predict frequency of the variants using the available population databases, such as dbSNP and EVS.
4)    Complete Table 1

13:50 – 14:20
1)    Asses impact of variants on function of the corresponding proteins using multiple prediction tools.
2)    Conduct genotype-phenotype analysis on the prioritized gene lists and integrate the clinical data.
3)    Complete Table 1

Files Required for This Session:

Worksheet Handout

Dropbox - access to sort.bam. files

Chromosomal Microarray

Title of Symposium: Workshop on Interpretation of Copy Number Variants (CNVs)

Chromosome microarray testing is now widely used for detecting large and small chromosomal copy number changes. The workshop will provide information and practical tips required for interpretation of array findings (copy number variants CNVs). The workshop will start with a summary of the guidelines available for microarray testing in postnatal and prenatal cases as well as neoplasia. The main categories of copy number variants (CNVs) identified by arrays and the public resources used in their interpretation will be outlined. The recent (2014) updates in the two commonly used resources for CNV interpretation DECIPHER (which catalogues patient CNVs) and DGV (which catalogues common CNVs) will be provided. Using clinical examples participants will gain experience in interpreting variants obtained by Affymetrix CytoScan HD Array analysis, This will include gene content analysis (recessive, dominant, OMIM) in Regions of Homozygosity (ROH). This introductory workshop will be of value to: clinicians, genetic counselors, research scientists, post-doctoral fellows, and graduate students interested in clinical and research application of chromosome microarrays.

Dr. Evica Rajcan-Separovic, Associate Professor, Department of Pathology, University of British Columbia, BC Children’s Hospital, Vancouver BC
Dr. Kamilla Schlade-Bartusiak, Children’s and Women’s Health Centre of British Columbia, Cytogenetics Laboratory, Vancouver BC
Dr. Lindsay Brown, Children’s and Women’s Health Centre of British Columbia, Cytogentics and Molecular Genetics Laboratory, Vancouver BC

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

  1. Familiar with microarray guidelines for interpreting and reporting CNVs
  2. Be able to use online resources for CNV interpretation: Database of Genomic Variants, UCSC Genome Browser, DECIPHER
  3. Be able to formulate steps required for clinical interpretation of microarray cases

Each participant will need to bring their own laptop. Examples used are posted in the following link

  1435-1445

Q & A Session 

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Sunday, 9 November 2014
0900-1800  

Registration is separate for this Symposium.  It is not through the CCMG. Registration is open!

First International Weaver Syndrome Conference (CCMG Satellite Meeting - Registration is separate)

Serena Buontempo, European Institute of Oncology

Human induced pluripotent stem cells (iPSC) are an innovative tool to study disease relevant pathways.This approach has been successfully used in our laboratory to gain insight on a so far poorly characterized neurodevelopmentaldisorders, including Williams Beuren syndrome and autism.We found that some disease-relevant pathways are already disrupted at the iPSC stage and more deeply affected during differentiation.Weaver syndrome is caused by a mutation of the Ezh2 gene. We have already uncovered the effect of Ezh2 inactivation in a mouse neural differentiation system and our findings show that important neuron-associated pathways are altered as a result of Ezh2 inactivation. Our aim in the study of Weaver syndrome is to combine the knowledge gained from the mouse in vitro differentiation system with the unprecedented power afforded by iPSC technology. This approach will provide important insight on how the disruption of Ezh2 function that occurs in Weaver Syndrome alters neuronal performance and connectivity.

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

  1. List of advantages and disadvantages of the use of iPCS in complex neurodevelopmentaldiseases
  2. Explain the process of reprogramming a terminally differentiated somatic cell into a pluripotent stem cell
  3. Summarize major features of Weaver Syndrome, Williams Beuren Syndrome and Autism Spectrum Disorders

Sanoa Choufani, Researcg Associate, The Hospital for Sick Children

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

  1. Review the utility of DNA methylation analysis in Ocergrowth Syndromes
  2. Discuss the relevance of DNA methylation testing in Ocergroth Syndromes
  3. Compare between genetic and epigenetic studies of overgrowth syndromes

Steven Jones, Associate Director and Head, Bioinformatics, Genome Sciences Centre, BC Cancer Agency

Description:
The symposium will highlight the role that proteins that modify the human epigenome can play in the development of human cancer. Many of the genes involved in developmental disorders also have a role in the aetiology of human cancer. Chemical modifiers of these proteins and pathways are being developed for the treatment of human cancer and these may also have a potential role in the treatment of inherited diseases. The symposium will be of value to clinicians and geneticists who treat genetic disorders where the underlying mechanism of the disease is to perturb the epigenetics of a cell.

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

  1. Determine the role that EZH2 plays in human cancer in addition to Weaver syndrome.
  2. Identify other human genes that are involved in modifying the epigenome and that play a role in both developmental disorders and cancer.
  3. Discuss mechanisms by which the epigenome can be modified chemically to potentially mitigate the effects of mutations in these genes.

David D. Weaver, M.D., Professor Emeritus, Department of Medical and Molecular Genetics, Indiana University School of Medicine

Description:
The symposium will look at the evolution of our understanding of Weaver syndrome from the initial recognition of the condition, to the discovery of the gene involved, and to our understanding of the molecular basis for the disorder. Further we will explore the phenotypic spectrum associated with mutations in the EZH2 gene, which is surprisingly quite broad. The symposium will be of value to general practitioners, pediatricians, clinical geneticists, genetic counselors, molecular geneticists and government administrators.

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

  1. Recognition of a new syndrome in many cases begins with the phenotypic description of the condition.
  2. Realize that with many syndromes, the more severely affected individuals are recognized first with the more milder involved individuals identified subsequently.
  3. Recognized dysmorphic syndrome is genetically determined that the gene(s), and consequently the molecular defect, will likely soon be discovered.
  4. Appreciate the evolution of our understanding of and molecular basis for the Weaver syndrome.
  5. Describe the major phenotypic characteristics of the Weaver syndrome.
  6. Recognize that there is great phenotypic variation associated with mutations in the EZH2 gene.

Registration is open!

This is the first international conference with a focus on Weaver syndrome, a rare genetic condition caused by mutations in the EZH2 gene. Our program of events will be headlined by a presentation by Professor David Weaver, who was the first to describe the genetic syndrome that now bears his name. We plan to have several other internationally-respected speakers, as well as a trainee session and a family-friendly social event for families with members affected by Weaver syndrome and similar overgrowth conditions. Registration is free! Please contact Dr. William Gibson directly if you wish to submit an abstract or poster.

Have questions about First International Weaver Syndrome Conference (CCMG Satellite Meeting)? Contact This email address is being protected from spambots. You need JavaScript enabled to view it., MD PhD