Isabel Bär: A Novel Gene Therapy Strategy for Heterozygous VWD
Isabel Bär, PhD candidate of Department of Hematology at Erasmus University Medical Centre, shared on LinkedIn about a recent article she and her colleagues co-authored, adding:
”Von Willebrand disease is genetically messy… hundreds of variants and multiple mechanisms complicate everything from diagnosis to therapy.
So how do you design a gene therapy for that?
- Can we tackle hundreds of different VWF mutations without designing hundreds of different therapies?
- Can we fix a disease by removing something rather than adding?
- What if the simplest strategy is taking a step back and targeting entire alleles instead of individual mutations?
Turns out: It might be!
In our new paper we propose a novel gene therapy strategy for heterozygous VWD.
By selectively removing the mutant allele, the patient-derived endothelial cells reverted to a healthy VWF phenotype!
And the cool part is that you don’t even have to target the mutation itself but you can just target a common heterozygous SNP, which will be enough to eliminate the entire allele!
If you want to see how this worked in type 2A and type 2B VWD patient‑derived endothelial cells, check out our paper published in Blood Advances:
Thanks to everyone for their contributions to this work!
Especially to Stijn Groten for his mass-spec expertise and my supervisor Ruben Bierings!
This project was so much fun!”
Title: Allele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9
Authors: Isabel Bär, Stijn A. Groten, Alastair Barraclough, Petra E. Bürgisser, Calvin van Kwawegen, Peter J. Lenting, Iris van Moort, Jeroen C. J. Eikenboom, Frank W. G. Leebeek, Jan Voorberg, Maartje van den Biggelaar, Ruben Bierings
Read the Full Article on Blood Advances

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