Decoding KCNJ2 Variants: Mechanistic and Therapeutic Profiling of Kir2.1 Channel Dysfunction
At a Glance
The project, Decoding KCNJ2 Variants: Mechanistic and Therapeutic Profiling of Kir2.1 Channel Dysfunction, led by postdoctoral fellow Saba Munawar, PhD, investigates how genetic variants in KCNJ2 disrupt the Kir2.1 ion channel and contribute to heart rhythm disorders, including Anderson-Tawil Syndrome. Using advanced computer modeling, laboratory testing and stem cell-based approaches, the study aims to uncover the mechanisms driving arrhythmias and to identify potential targeted medications. By clarifying which patients may benefit from specific therapies, this work will advance personalized treatment for rare genetic arrhythmias and may also inform new options for common conditions. Lee Eckhardt, MD, professor, Department of Medicine, UW–Madison, serves as the supervising mentor.