Gene therapy of Joubert syndrome

Gene editing was used for the first time against kidney failure

Sergey Kolenov, Hi-tech+

Using artificial DNA, scientists have blocked the work of a mutant gene in mice with Joubert syndrome. There is no specific treatment for people yet, but this experience opens the way for clinical trials.

Joubert syndrome is a rare hereditary disease that affects one in 80,000 newborns. The disease is characterized by brain damage that leads to physical and mental abnormalities. About a third of patients also suffer from kidney failure associated with a mutation in the CEP290 gene.

Researchers from the British University of Newcastle, whose work is reported by the Gene editing possible for kidney disease press release, have proved that gene therapy can alleviate the condition of patients with Joubert syndrome. Scientists used the so–called exon exclusion method to combat it - they injected artificial DNA fragments into the cell to bypass the harmful mutation.

The effectiveness of the technique was confirmed on tissue cultures, as well as on mice with an analogue of Joubert syndrome, kidney cysts and renal insufficiency. Therapy helped most of the subjects.

Scientists emphasize that this is the first case of successful use of gene therapy to combat kidney diseases. Previously, such procedures were not carried out even on animals, because the development and delivery of therapy was considered too complicated.

Article by Ramsbottom et al. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model is published in PNAS – VM.

The new study was a big step forward. It opens the way to personalized gene therapy for patients with hereditary kidney diseases. Scientists plan to continue experiments with rodents and launch clinical trials on humans within three years.

Gene therapy is a very promising method of combating hereditary diseases, but sometimes drugs and procedures are too expensive. For example, a new remedy for spinal muscular atrophy, developed by Novartis, was estimated at $ 4-5 million per course. As a result, the company was hit by a barrage of criticism.

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