The Costain lab is focused on understanding the causes and consequences of rare variation in the human genome. The team uses genome sequencing to discover new disease genes and genotype-phenotype associations, in a setting of an undiagnosed paediatric disease program. A related goal is to develop new methods for adjudicating the pathogenicity of rare genetic variants in humans.
- Staff Physician, Division of Clinical & Metabolic Genetics, The Hospital for Sick Children
- Scientist-Track Investigator, Genetics & Genome Biology, SickKids Research Institute
- Assistant Professor, Department of Paediatrics, University of Toronto