Description of Clinical Expertise

Disorders of hemostasis and thrombosis with a particular interest in hemophilia and hemophilia gene therapy.

Description of Research Expertise

My laboratory studies the molecular basis of coagulation that in diminished or excess functional states leads to disorders of hemostasis and thrombosis, respectively. We are particularly interested in the intrinsic tenase enzyme complex that, in deficiency states, results in hemophilia A or B. The current primary focus of our work is the regulation of factor VIII cofactor function with the goal of exploiting our biochemical understanding to develop gene based therapies for hemophilia A. We are additionally interested in understanding the mechanistic basis of translational questions that have emerged from hemophilia gene therapy clinical trials. I was previously the lead clinical principal investigator of early phase hemophilia A and B adeno-associated virus-mediated gene addition trials. Lastly, I am the director of the Clinical In Vivo Gene Therapy at the Children's Hospital of Philadelphia that long-term aims to safely and efficiently advance translational and clinical research for in vivo gene therapy for children with genetic disorders.