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Understanding the genetic basis of bleeding disorders
April 17, 2024
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Dr. Paula James is a hematologist specializing in inherited bleeding disorders.
For most people, a simple prick of the finger is nothing more than a fleeting discomfort, quickly forgotten as they carry on with their day. But for others, that tiny puncture is far more than a momentary inconvenience, and can create a domino effect of complications, revealing hidden health challenges.
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. At Queen’s, Paula James (Department of Medicine) is the Principal Investigator of the Clinical and Molecular Hemostasis Research Group. Leading an active program of basic and clinical research, Dr. James focuses on the genetic foundations of inherited bleeding disorders. Leveraging expertise in blood-based research at Queen’s and Kingston Health Sciences Centre, she and her team 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.
“In Canada, current estimates suggest that we have only identified around 10 per cent of these individuals, leaving tens of thousands with undiagnosed bleeding disorders, despite viable treatments being available.”
– Dr. Paula James, Queen's Department of Medicine
Several factors contribute to this underdiagnosis, including limited access to and challenges associated with coagulation testing, as well as the oversight of symptoms, especially those affecting women.
Recently, Dr. James and her team were awarded $1.374 million from the Canadian Institutes of Health Research (CIHR). This three-year project, funded by the CIHR Team Grant, aims to reduce the time to diagnosis for individuals suspected of having an inherited bleeding disorder by implementing early genomic testing.
“Genomic testing holds great promise to identify bleeding disorders in individuals who cannot currently be diagnosed through traditional coagulation assays,” says Dr. James.
Beyond diagnosis, Dr. James’ work also aims to unravel the genetic factors underlying coagulation disorders which can lead to excessive bleeding or clotting. This could potentially lead to more personalized treatments and management strategies based on individual genetic profiles, and hopefully, treatments and prevention methodologies that would improve her patients’ quality of life.
Women with bleeding disorders can wait up to 15 years to get appropriate testing and treatment.
In 2023, she and Dr. Mackenzie Bowman (Department of Medicine) secured a two-year grant from the Canadian Hemophilia Society to investigate the mechanisms underlying heavy menstrual bleeding in VWD. Utilizing Human Endometrial Endothelial Cells (HEECs) obtained from menstrual blood samples, the team sought to uncover potential differences and causes of heavy menstrual bleeding in individuals with VWD.
While the project is still ongoing, the team has achieved success in isolating and culturing endothelial cells from menstrual blood samples. Dr. James notes that collecting these cells using a simple menstrual cup holds significant promise, opening up this line of investigation to a broader range of participants.
“This development is particularly exciting because previous methods for obtaining HEECs required an endometrial biopsy, which is painful, invasive, and carries a risk of bleeding, especially for those with an underlying bleeding disorder,” she says.
Dr. James underscores the importance of understanding bleeding disorders in women, as heavy menstrual bleeding and post-partum hemorrhage can have severe consequences yet remain poorly understood due to historical research predominantly focused on men.
As she continues to pioneer innovative approaches in understanding bleeding disorders, Dr. James’ research not only promises advancements in diagnostics and treatment for Canadians, but also offers hope for a more inclusive and comprehensive approach to women’s health.
To learn more about her work, visit the James Lab Clinical and Molecular Hemostasis Research Group.
April 17 marks World Hemophilia Day – a day dedicated not only to raising awareness about hemophilia but also shedding light on von Willebrand Disease (VWD) and other hereditary bleeding disorders. It is a platform to amplify the complexities surrounding proper care, essential for driving advancements in treatment and diagnostic practices.
