Dr. Paula James, a Principal Investigator in the Clinical and Molecular Hemostasis Research Group at Queen’s University, leads a dedicated team of graduate students and research associates focused on understanding the genetic basis of inherited bleeding disorders. With a strong commitment to improving patient care, her research explores diagnostic pathways and the quantification of bleeding symptoms, ultimately striving for better outcomes for individuals with these conditions.
Advancing Diagnosis with Early Genomic Testing
As a recipient of SEAMO’s Established Researcher Fund in 2024, Dr. James and her team are conducting a prospective pilot study to assess the feasibility and diagnostic utility of early genomic testing for patients with inherited bleeding disorders who do not achieve a diagnosis with first-line testing. Many individuals with bleeding symptoms undergo extensive rounds of testing yet remain undiagnosed. Currently, genetic testing is not included in routine diagnostic pathways for these patients. Through this study, participants gain access to early genomic testing, potentially leading to faster diagnosis, more effective treatments, and improved quality of life. By integrating genomic analysis into the diagnostic process, Dr. James’ research hopes to bridge the gap between clinical symptoms and definitive diagnoses.
Progress and Impact
The support from SEAMO has been instrumental in making genomic testing accessible to individuals who do not receive a first-line diagnosis. Given the study’s focus on genomic analysis, this funding has been crucial in facilitating research efforts, enhancing diagnostic accuracy, and ultimately improving patient care. The project has been met with enthusiasm from patients eager to participate. To date, nearly 40 individuals have been recruited, and while preliminary results are still under analysis, the findings are already showing promising implications for patient care.
Looking Ahead
Dr. James and her team envision this project playing a key role in transforming the diagnostic process for inherited bleeding disorders. By advocating for the integration of early genomic testing into clinical practice, their work has the potential to shape future healthcare policies and improve diagnostic and treatment pathways for patients worldwide. Stay tuned for further updates as this important research continues to evolve.