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Hematology Disease Topics & Pathways:
Research
Description:
This scientific session will highlight research into novel therapeutic approaches for bleeding disorders.
Dr. Leah Sabin will present a next-generation approach to gene replacement therapy for hemophilia. She will provide an overview of a CRISPR-mediated targeted gene insertion platform that utilizes the Albumin locus to express therapeutic proteins from the liver, and will discuss how the technology has been applied to the development of a potential treatment for hemophilia B.
Dr. Lindsey George will discuss efforts to engineer Factor VIII to improve the therapeutic effect of hemophilia A gene transfer. Like current hemophilia B gene therapy efforts that universally employ an enhanced hemostatic function Factor IX variant (Factor IX-Padua), hemophilia A gene therapy may similarly be revolutionized by using Factor VIII variants with improved hemostatic function and/or secretion. Dr. George will discuss prior and ongoing basic and translational efforts to rationally design Factor VIII variants for improved, second-generation approaches to hemophilia A gene therapy.
Dr. Jeroen Eikenboom studies siRNA-mediated approaches to treat von Willebrand disease (VWD). Current treatment of VWD focuses on increasing circulating von Willebrand factor (VWF) levels by desmopressin or VWF-containing concentrates. However, this approach leaves the production of mutant VWF unhindered. In most cases, VWD is caused by heterozygous missense mutations that have a dominant-negative effect. Selective silencing of expression of this mutant allele would result in the production of normal VWF only and thereby improvement of the bleeding phenotype. The talk will focus on the possibilities of selective inhibition of mutant VWF alleles using siRNAs.
Dr. Leah Sabin will present a next-generation approach to gene replacement therapy for hemophilia. She will provide an overview of a CRISPR-mediated targeted gene insertion platform that utilizes the Albumin locus to express therapeutic proteins from the liver, and will discuss how the technology has been applied to the development of a potential treatment for hemophilia B.
Dr. Lindsey George will discuss efforts to engineer Factor VIII to improve the therapeutic effect of hemophilia A gene transfer. Like current hemophilia B gene therapy efforts that universally employ an enhanced hemostatic function Factor IX variant (Factor IX-Padua), hemophilia A gene therapy may similarly be revolutionized by using Factor VIII variants with improved hemostatic function and/or secretion. Dr. George will discuss prior and ongoing basic and translational efforts to rationally design Factor VIII variants for improved, second-generation approaches to hemophilia A gene therapy.
Dr. Jeroen Eikenboom studies siRNA-mediated approaches to treat von Willebrand disease (VWD). Current treatment of VWD focuses on increasing circulating von Willebrand factor (VWF) levels by desmopressin or VWF-containing concentrates. However, this approach leaves the production of mutant VWF unhindered. In most cases, VWD is caused by heterozygous missense mutations that have a dominant-negative effect. Selective silencing of expression of this mutant allele would result in the production of normal VWF only and thereby improvement of the bleeding phenotype. The talk will focus on the possibilities of selective inhibition of mutant VWF alleles using siRNAs.