Personalized gene-targeted treatment strategies for von Willebrand disease

Current therapies for patients with von Willebrand disease (VWD) include the use of desmopressin (DDAVP) or the administration of von Willebrand Factor (VWF) concentrates. In this collaboration with Erasmus MC (group of Prof. Leebeek) and Amsterdam UMC (group of Prof. Voorberg) we will (further) investigate whether we can correct the phenotype of VWF mutations by the use of small interfering RNAs (siRNAs), antisense oligonucleotides (AONs) and CRISPR/cas. The VWF group of the LUMC will focus on allele-specific inhibition of the expression of the mutant VWF allele. By inhibiting the expression of the mutant allele, only the normal allele will be expressed. Thereby the dominant-negative effect of the mutant allele will be diminished and the phenotype will be improved.