DATE2025.10.30 #News

From “Repairing” to “Enhancing” Genes

-A New Genome Editing Therapy for Hemophilia B Using Base Editing Technology-

Summary

Assistant Professor Nemekhbayar Baatartsogt, Associate Professor Hiroshi Kashiwakura, and Professor Tsukasa Omori from the Department of Pathophysiological Biochemistry, Division of Biochemistry, and the Center for Gene Therapy Research, Jichi Medical University School of Medicine; Associate Professor Yusuke Sato from the Graduate School of Pharmaceutical Sciences, Hokkaido University; Professor Tatsuhiro Ishida from the Graduate School of Medicine, Dentistry and Pharmaceutical Sciences (Pharmacy), Tokushima University; and Lecturer Atsushi Hoshino from the Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto Prefectural University of Medicine Professor Osamu Nureki, Graduate School of Science, The University of Tokyo, and others. Using base editing technology, they successfully induced a gain-of-function mutation in the human coagulation factor IX gene (F9), thereby enhancing factor IX activity in vivo. As a result, increased factor IX activity and improved bleeding tendency were confirmed in model mice harboring variants derived from multiple human hemophilia B patients. This research presents a new therapeutic paradigm that goes beyond conventional gene repair therapies aimed at “reversing” disease-causing variants, instead intentionally enhancing protein function. This strategy holds potential for application not only to hemophilia B but also to other inherited disorders.

Figure : Concept of genome editing therapy for hemophilia B by introducing gain-of-function mutations

Links

Jichi Medical University, Hokkaido University, Tokushima University, Kyoto Prefectural University of Medicine

Published Journals