GENE Z. Zhang, M. Eriksson, C. Graff, M. Blomback and M. Anvret Departments of Molecular Medicine, Clinical Neuroscience and Laborarory Medicine Coagulation Research, Karolinska Hospital, Stockholm, Sweden Patients with von Willebrand disease type 3 are severely affected and most require replacement therapy with clotting factor concentrates. The causative defects in the gene are either point mutations or deletions of different lengths. We have applied a novel gene repair strategy to attempt to correct homozygous point mutations in isolated cells from von Willebrand disease type 3 patients. The gene correction efficacy was measured by PCR amplification and restriction enzyme cleavage.
Preliminary data indicate that the targeted mutated sequence was repaired.
Successfull application of gene repair technology could lead to the production of a sufficient level of the appropriate coagulation factor.