Leading The Research Effort On Von Willebrand Disease, 100 Years After It Was First Described | NSW Health Pathology

Leading The Research Effort On Von Willebrand Disease, 100 Years After It Was First Described | NSW Health Pathology
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Leading the research effort on von Willebrand disease, 100 years after it was first described
Leading the research effort on von Willebrand disease, 100 years after it was first described
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17th April, 2026
This year marks a century since the initial identification of VWD – a bleeding disorder thought to be more common than haemophilia. Today on World Haemophilia Day, we meet world leading VWD researcher, NSW Health Pathology’s Professor Emmanuel Favaloro.
Every year on 17 April,
World Haemophil­ia Day
is recog­nised world­wide to increase aware­ness of haemophil­ia, von Wille­brand dis­ease (VWD) and oth­er inher­it­ed bleed­ing disorders.
The World Fed­er­a­tion for Hemo­phil­ia (WFH) esti­mates that over 75% of peo­ple liv­ing with haemophil­ia world­wide
have not yet been iden­ti­fied and diag­nosed
. There are sev­er­al types of haemophil­ia, with the most com­mon being Haemophil­ia A (marked defi­cien­cy in clot­ting fac­tor VIII) fol­lowed by Haemophil­ia B (marked defi­cien­cy in clot­ting fac­tor IX).
The diag­nos­tic sit­u­a­tion for VWD, a bleed­ing dis­or­der believed to be more com­mon than haemophil­ia, is
glob­al­ly known to be even worse than that for haemophil­ia
. VWD is due to a marked defi­cien­cy in a haemo­sta­t­ic pro­tein called von Wille­brand fac­tor (VWF).
NSW Health Pathol­o­gy utilis­es a con­tem­po­rary pan­el of lab­o­ra­to­ry assays to aide in the diag­no­sis of both haemophil­ia and VWD, with these tests being har­monised across dif­fer­ent lab­o­ra­to­ries with­in the net­work. Much of this work
has been led by one of our Prin­ci­pal Sci­en­tists, Pro­fes­sor Emmanuel J Faval­oro
, based at West­mead Hospital.
Pro­fes­sor Faval­oro has pub­lished over 130 papers on VWD. The year 2026 marks the 100-year anniver­sary of the recog­ni­tion of VWD. Prof Erik von Wille­brand pub­lished his sem­i­nal work in 1926, although he called his new­ly iden­ti­fied bleed­ing dis­or­der “Hered­i­tar pseu­doe­mophili” (or “hered­i­tary pseudohemophilia”).
Lead­ing Haema­tol­ogy researcher Prof Emmanuel Favaloro.
Pro­fes­sor Faval­oro has been
ranked by Schol­arG­PS to be with­in the top 5 in the world
for his work on VWD, and
num­ber one in the world for the field of hemo­sta­sis
.
“The theme of World Haemophil­ia Day this year is ‘Diag­no­sis: First Step to Care’. Here at NSW Health Pathol­o­gy our focus is on improv­ing dis­ease diag­no­sis of peo­ple in NSW, but also geo­graph­i­cal­ly more wide­ly due to dis­sem­i­na­tion of world best prac­tice from our world-renowned sci­en­tists and pathol­o­gists,” Pro­fes­sor Faval­oro said.
“This year being the 100 year anniver­sary of the ini­tial iden­ti­fi­ca­tion of VWD, we aim to pro­vide greater access to care for the large num­ber of peo­ple liv­ing with haemophil­ia, or VWD, or indeed any bleed­ing dis­or­der, who are yet to be iden­ti­fied or prop­er­ly diagnosed.
“Through my research, I hope to bring improved diag­no­sis and thus also treat­ment options to peo­ple liv­ing with bleed­ing dis­or­ders and help improve their qual­i­ty of life.
“Although bleed­ing dis­or­ders can lead to seri­ous com­pli­ca­tions, a diag­no­sis need not pre­vent peo­ple from liv­ing a nor­mal life.”
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NSW Health Pathology acknowledges the Traditional Custodians of the land across NSW whose cultures and customs have nurtured and continue to nurture this land. We would like to pay our respects to the Elders past, present and emerging, for they hold the memories, the traditions, the culture and hopes of Aboriginal and Torres Strait Islander peoples across the state.
Aboriginal Workforce Development
Closing the Gap
NSW Health Pathology acknowledges the Traditional Custodians of the land across NSW whose cultures and customs have nurtured and continue to nurture this land. We would like to pay our respects to the Elders past, present and emerging, for they hold the memories, the traditions, the culture and hopes of Aboriginal and Torres Strait Islander peoples across the state.
Aboriginal Workforce Development
Closing the Gap
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