Prime editing as a potential therapy for a prevalent ARVD/C- related PKP2 (IVS10-1 G>C) mutation.

• Applicant: Sandra Ratnavadivel, Ph.D.
• Subject Area: Cardiology, Angiology ; Cardiac and Vascular Surgery ; Human Genetics
• Term: since 2024
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 555175680

ARVD/C is a hereditary disease without individualized therapy. Therefore, it is crucial to identify therapeutic strategies that target the genetic drivers and causes of ARVD/C pathogenesis, as well as methods to reverse the underlying genetic triggers of ARVD/C. Prime editing is an emerging technology for precise genome editing that can introduce accurate point mutations, small insertions, or small deletions without generating double-strand breaks. In this work, prime editing will be used to achieve a genetic correction of a common splice site (IVS10-1 G>C) in the desmosomal gene plakophilin-2 (PKP2) and to evaluate its impact on ARVD/C pathogenesis.

• DFG Programme: WBP Fellowship
• International Connection: USA
• Host: Professorin Dr. Farah Sheikh, Ph.D.