MADD: First Causal Gene for Quantitative Von Willebrand Disease Discovered
Isabel Bär, PhD candidate at Erasmus MC, shared a proud post on LinkedIn:
”Unraveling the cause of a rare disease by studying an even rarer disease… Who says scientists aren’t creative!
So proud of my amazing colleague Sophie Hordijk, under supervision of Ruben Bierings and Frank Leebeek, for investigating the secretion machinery in a disease affecting only 26 patients worldwide and uncovering insights that bring us closer to solving a major mystery in the most common inherited bleeding disorder globally: Von Willebrand disease.
These findings could help explain why around 20% of Von Willebrand disease patients bleed without carrying mutations in their Von Willebrand factor gene. The identification of MADD as the first causal gene for quantitative Von Willebrand disease is a great example of how rare disease research can unlock answers to broader medical questions.
No wonder that Amazing Erasmus MC picked up on it – truly amazing work, congratulations!
If you want to know why it was necessary to go to 4 different countries (Czech Republic, Germany, Belgium, and the UK) to perform this study, check out the interview.
And if you’re looking for a deeper scientific dive beyond this interview, check the recently published results in Blood!”
To learn more, follow the link.
Read the full article here.
Article: A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants
Authors: Sophie Hordijk, Stijn A. Groten, Petra E. Bürgisser, Sebastiaan N.J. Laan, Georg-Christoph Korenke, Tomáš Honzík, Diane Beysen, Frank W.G. Leebeek, Paul A. Skehel, Maartje van den Biggelaar, Tom Carter, Ruben Bierings
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