ASCI / Emerging-Generation Awards, 2022

Joshua I. Siner, MD, is a clinical fellow in Hematology and Medical Oncology at Washington University in Saint Louis with an interest in classical hematology. He completed his medical degree at Cooper Medical School of Rowan University and subsequently internal medicine training at Brown University with an emphasis on clinical education. Prior to entering clinical training, he studied under the mentorship of Dr. Valder Arruda investigating hemostasis, thrombosis, and translational studies of adeno-associated virus (AAV) gene therapy for inherited bleeding and thrombotic diseases. Specifically across three specific domains, first the identification that PACE/furin is deleterious for factor VIII’s secretion through evolutionary and heterologous expression studies. Engineering out the PACE/furin recognition motif improved AAV-based factor VIII gene transfer in both hemophilia A mice and dogs, without comprising the immunogenicity of the transgene. He received the 2015 HONORS award (Hematology Opportunities for the Next Generation of Research Scientists to support medical student and resident trainee research) from the American Society of Hematology in support of this work. Second, assessing the thrombogenic and immunogenic risks of high functioning factor IX-Padua variant, which has been important safety data preceding AAV clinical trials for hemophilia B. Finally, assessing the biodistribution and risk for germline transmission of AAV vectors in large animals, serotypes that are now commonly used in gene therapy trials.

Dr. Siner’s current clinical interests are focused on classical hematology including congenital and acquired disorders of hemostasis, clinical trial development and implementation.