Hemophilia | CHOP Research Institute


Published on
May 12, 2022
CHOP recognized gene therapy pioneer, Katherine High, MD, with Children’s Hospital of Philadelphia’s Gold Medal Award.

This clinical trial study uses a modified adeno-associated virus (AAV) to carry the human factor VIII gene to the liver.

The research in the Sabatino Laboratory is focused on the inherited bleeding disorder, hemophilia.

The development of gene-based strategies for the treatment of bleeding and thrombotic diseases is at the heart of research in the Arruda Lab. Working collaboratively, the lab team and their colleagues have carried out early-phase clinical studies on adeno-associated viral vectors for the treatment of severe hemophilia B.

Our lab is interested in the hemostasis system, especially coagulation factor VIII and IX, which are deficient in the bleeding disorders hemophilia A and B. By studying these blood proteins, the lab team aims to improve therapies for children with these diseases including gene therapy.

Dr. Samelson-Jones is a pediatric hematologist dedicated to improving the lives of children with bleeding and clotting disorders. His research focuses on gene therapy for hemophilia, the biochemical basis of coagulation, and the immune responses to hemophilia therapies.

samelsonjonesb [at] chop.edu
Published on
Apr 19, 2019
Whether they study helmets on the football field or hemophilia in a lab, our scientists at Children’s Hospital of Philadelphia Research Institute are always on the cutting-edge of their respective fields, as the latest roundup of research news shows.

Dr. Margaritis uses biochemical, molecular, and complex in vivo methodology within the field of coagulation to advance the understanding of molecular mechanisms involved in pro- and anti-coagulant reactions, and translate research for the treatment of coagulation defects.

margaritis [at] chop.edu

The research in the Sabatino Laboratory is focused on hemophilia, an inherited bleeding disorder. The interests of the laboratory include the study of variants of coagulation factor VIII to understand the biochemical properties of these proteins and to identify novel variants with enhanced function, and the development of gene-based therapeutic approaches for treating hemophilia.

sabatinod [at] chop.edu
Published on
Sep 20, 2018
Two exciting lines of research build on what we know about hemophilia to improve existing treatments.