Promising clinical study on the KCNJ13 gene has been conducted using QPatch
In a groundbreaking study, Dr. Meha Kabra of Prof. Bikash Pattnaik’s lab at the University of Wisconsin-Madison and collaborators have used non-viral base-editing of the KCNJ13 mutant gene to preserve eyesight in a retinal channelopathy arising from a mutant Kir7.1 ion channel.
Leber Congenital Amaurosis (LCA16) results in a rare paediatric blindness. Using QPatch automated patch clamp, Kabra et al.’s base-editing intervention corrected the mutant Kir7.1 channel currents, which reduced the progression of retinal degradation and blindness in their in vivo model.
This pre-clinical model offers potential therapeutic techniques to correct ocular diseases and base-editing may be a future treatment for other genetic rare diseases.