GENOMIC TESTING

One in 1,000 individuals globally and in Canada are estimated to have an inherited bleeding disorder. However, the actual diagnosed cases are far fewer. Underdiagnosis is affected by several factors including limited access to and challenges associated with coagulation testing, as well as the oversight of symptoms, especially those affecting women. The team's studies therefore focus on the genetic foundations of inherited bleeding disorders. Leveraging expertise in blood-based research at Queen’s and Kingston Health Sciences Centre, we spearhead investigations into von Willebrand Disease (VWD) and hemophilia, utilizing genomic technologies to unearth clinically pertinent insights into the molecular genetic basis of these conditions.