Scientific Program

CCMG 2016 SCIENTIFIC PROGRAM

Sunday June 19, 2016 Evening

1830-1930

Opening Keynote – Is This Really a Revolution?: Personalized Medicine and the Promise of Better Health

 

Timothy Caulfield, Canada Research Chair in Health Law and Policy, Professor, faculty of law, School of Public Health, University of Alberta, Edmonton AB Canada

Monday June 20, 2016 Afternoon

1330-1500

CCMG Platform Presentations

1330-1342

The clinical utility of targeted next generation sequencing in prenatal congenital heart disease

 

Dr. Yanwei Xi

1342-1354

7p22.3p22.2 microdeletion is associated with variable developmental delay and characteristic facial features

 

Dr. Andrea Yu

1354-1406

A new case of 5q31 microdeletion syndrome and putative causative genes

 

Dr. Caitlin Chang

1406-1418

ALG9-CDG: New Clinical Case and Review of the Literature.

 

Dr. Kellie Davis

1418-1430

A rare four break balanced reciprocal insertional chromosomal translocation – a case report

 

Dr. Kathleen Bone

1430-1500

Break with the Exhibitors

1500-1512

Novel WDR45 mutation identified in patient diagnosed with Beta-propeller protein associated neurodegeneration

 

Dr. Marisa Chard

1512-1524

Novel HPD mutations identified in First Nations Canadian siblings diagnosed with Tyrosinemia Type III

 

Dr. Alison Eaton

1700-1900

Poster Presentations

 

Interactive session with the authors of poster presentations.

Tuesday June 21, 2016 Morning

0830-1230

Symposium 1: Cancer Genetics

0830

Pediatric Cancers

 

Dr. David Malkin, Senior Staff Oncologist, Haematology/Oncology, Director, Cancer Genetics Program, Professor, Department of Paediatrics, Professor, Department of Medical Biophysics, School of Graduate Studies, The Hospital for Sick Children, Toronto ON Canada

0910

GI Cancers

 

Dr. William Foulkes, Professor, Departments of Medicine, Human Genetics and Oncology, McGill University, Director, Program in Cancer Genetics, McGill University, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montréal QC Canada

0950

Pancreatic Cancers

 

Dr. George Zogopoulos, Assistant professor, Surgery, McGill University, Surgeon, McGill University Centre, Cancer Research Society, Montréal QC Canada

1030

Refreshment Break

1100

Breast Cancer

 

Dr. William Foulkes, Professor, Departments of Medicine, Human Genetics and Oncology, McGill University, Director, Program in Cancer Genetics, McGill University, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montréal QC Canada

1140

Prostate Cancer

 

Dr. Alexander Wyatt, Senior Research Scientist, Vancouver Prostate Centre, Assistant Professor, Department of Urologic Sciences, University of British Columbia, Gordon and Leslie Diamond Health Care Centre, Vancouver General Hospital, Vancouver BC Canada


Tuesday June 21, 2016 Afternoon

1330-1530

Breakout Sessions

1330

Clinical Breakout – Clinical; metabolic, IEM

 

Dr. Oana Caluseriu,MD FRCPC, FCCMG, Assistant professor, Department of Medical Genetics, University of Alberta,
Dr. Komudi Siriwardena,MBChB (otago), FRACP, FCCMG, Associate Professor, Department of Medical Genetics, University of Alberta, Stollery Children’s Hospital

1330

Molecular Genetics/WES

 

Dr. Dennis Bulman, Senior Scientist, CHEO Research Institute & Newborn Screening Ontario Affiliate Member, Regenerative Medicine Program, OHRI Full Professor, Department of Pediatrics, Faculty of Medicine, University of Ottawa

1330

Cytogenetics/aCGH

 

Dr. Judy Chernos, PhD, FCCMG, Associate Professor, Department of Medical Genetics, University of Calgary, Site Head, Genetic Laboratory Services, Cytogenetics Laboratory

1600-1800

Workshop - An update on Genetics Computer Programs

1600

FDNA

 

Mr. Dekel Gelbman, Chief Executive Office, FDNA Accessible Genetics, Boston USA

1630

Phenotip

 

Dr. Michael Brudno, Genetics & Genome Biology, University of Toronto, Toronto ON

1700

Matchmaker Exchange

 

Dr. Michael Brudno,Genetics & Genome Biology, University of Toronto, Toronto ON

1730

WES Analysis

 

Dr. Jillian Parboosingh, Alberta Children’s Hospital, Alberta Health Services, Calgary AB

Wednesday June 22, 2016 Morning

0830-1230

Symposium 2: The Genetics of Craniofacial Abnormalities

0830

The embryology of normal and abnormal craniofacial development

 

Dr. Kathleen Sulik, Cell Biology and Physiology, UNC School of Medicine, University of North Carolina, Chapel Hill NC

0910

Coffin-Siris and Nicolaides-Baraitser syndromes and related disorders

 

Dr. Dagmar Wieczorek, University of Dusseldorf, Dusseldorf Germany

0950

Refreshment Break

1020

TBD

 

Dr. Francois Bernier, Associate Professor, Department of Medical Genetics; Director, Clinical Genetics, Alberta Childrens’ Hospital, Calgary AB

1100

Ribosomopathies and spliceosomopathies - an update

 

Dr. Dagmar Wieczorek, University of Dusseldorf, Dusseldorf Germany

1140

The importance of global matchmaking to define new genetic syndromes: Examples from craniosynostosi

 

Dr. Micheil Innes, Department of Medical Genetics, Alberta Childrens’ Hospital, Calgary AB

1220

Closing remarks