Genetic editing breakthrough in Joubert Syndrome
Joubert syndrome primarily affects children from a very early age. It is an inherited condition that leads to kidney failure, blindness and brain developmental abnormalities.
It is an incurable condition. The treatments are mainly supportive. Dialysis or transplantation is required in majority of patients who suffer with kidney failure.
In a significant breakthrough, a team of scientists lead by Prof. John Sayer at Newcastle University has used gene-editing techniques to demonstrate benefits in kidney cells derived from the urine of the effected patients. They have also successfully used an animal model of this condition to test this new approach.
This gene editing method is known as “exon skipping”. This approach forces the genetic machinery ignore the mutation that causes this disease. This is targeted to the specific mutation causing the disease in the individual patients making it a huge step towards “personalized medicine”.
This is, of course, a very early exploratory study. The next steps would be to test the effects of this treatment on the eyes and brain of the mouse model.
The team at Newcastle is confident that this work will pave the way for a human trial in the very near future. This study is published in the journal Proceedings of the National Academy of Sciences.