Session:
Rare Genetic Disease
Rare Genetic Disease
Tuesday, 25 April, 2017 - 11:00 to 13:00
Chair
Precision Care in Rare Genetic Disease: towards a diagnosis for most patients
Associate Professor, Department of Medical Genetics, University of Calgary
Patients and families: moving to the centre - from subjects to partners in research
Chair, Rare Disease Foundation
The Gene Cure Legacy: Advancing diagnostics and therapies for rare diseases
Senior Scientist and Head, Genetics & Genome Biology, Hospital for Sick Children
A Missense Mutation in DCST2 Causes the Strongman Syndrome
PhD candidate, Human Genetics, McGill University
Poster: 24
Determining the Genetic Basis of Rare Diseases Using Whole-exome Sequencing: Brachydactyly Type 1A
Masters Candidate, Biochemistry, Western University
Poster: 27