What the research is about
My work centers on inherited bleeding disorders, a spectrum that includes well-known conditions like haemophilia and less familiar ones such as von Willebrand disease. At its core, these disorders involve a disruption in the body’s ability to form clots, which can lead to excessive or unusual bleeding. While each condition has its own genetic underpinnings and clinical presentation, they share a common goal: to understand how genetic variations translate into bleeding risk and how we can tailor treatments to reduce that risk for individuals and families.
The Irish program integrates patient-centered data, genetic profiling, and real-world treatment outcomes to uncover patterns that may be overlooked in conventional clinical trials. We examine how different mutations influence severity, response to therapy, and long-term health—factors that directly impact quality of life. Our aim is not only to treat bleeding episodes but also to anticipate complications, optimize prophylaxis, and empower patients with clearer information about their condition.
Key approach and methods
Our approach blends laboratory genetics with practical, clinician-led care delivery. We study family pedigrees, perform detailed genetic sequencing, and correlate laboratory findings with clinical histories, bleeding scores, and treatment responses. This multi-layered data helps identify which patients benefit most from certain therapies, such as extended half-life clotting factors, non-factor therapies, or personalized dosing strategies tailored to an individual’s bleeding phenotype and activity level.
We also investigate how comorbid conditions, age, and lifestyle factors influence bleeding risk and treatment effectiveness. By analyzing data from Irish patients alongside international cohorts, we seek to determine which findings are broadly applicable and which require local adaptation due to population-specific genetic patterns or healthcare system differences.
What we are discovering
One major thread in our findings is the value of precision prophylaxis—matching prevention strategies to a patient’s specific genetic and phenotypic profile. By refining who should receive preventive therapy and at what intensity, we can reduce bleeding events without unnecessary exposure to medications or their risks. This not only improves well-being but also has implications for healthcare resources, potentially lowering hospitalizations and the burden on families who live with daily management tasks for blood disorders.
Another area of importance is the practical integration of care across services. Inherited bleeding disorders require coordinated care from hematology, genetics, dentistry, surgery, and rehabilitation. Our work supports streamlined guidelines that help clinicians make timely decisions about surgery planning, dental procedures, or sports participation—areas where patients often face anxiety due to bleeding risk.
Impact on international practice
While the research is rooted in Ireland, its implications extend far beyond national borders. By sharing robust, real-world data that links specific genetic variants to clinical outcomes, we contribute to a growing evidence base that informs international guidelines. This evidence helps other countries refine screening programs, improve access to novel therapies, and adopt best practices for patient education and engagement. In a field where treatment landscapes evolve rapidly, such cross-border collaboration is essential to ensure that advances translate into safer, more effective care for people with inherited bleeding disorders worldwide.
What this means for patients and families
For individuals and families affected by haemophilia, von Willebrand disease, and related conditions, the research offers clearer expectations about prognosis and treatment options. It supports personalized care plans, informed choices about prophylaxis, and better preparation for life events that can challenge bleeding control, such as dental work or surgery. Ultimately, the goal is to reduce bleeding episodes, boost mobility and participation in daily life, and provide dependable, evidence-based guidance that clinicians can trust across different healthcare settings.
Looking ahead
Future work will expand data sharing with international partners, explore new therapies as they become available, and continue refining risk assessment tools. By staying patient-centered and scientifically rigorous, Irish research on inherited bleeding disorders will keep informing and improving global standards of care.
