Kidney Research UK funded scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

Joubert syndrome is a brain disorder, causing varying degrees of physical, mental and sometimes visual impairments. The condition affects approximately one in 80,000 newborns, and one third also experience kidney failure.

Not all patients with Joubert syndrome carry the faulty CEP290 gene, but those who do will develop kidney disease during their lifetime and may require a transplant or dialysis.

The research has found it is possible to use a strand of engineered DNA to trick the cells’ own editing machinery to bypass the CEP290 mutation that causes kidney damage – a technique known as ‘exon-skipping’.

Professor John Sayer, a consultant nephrologist at Newcastle Hospitals NHS Foundation Trust, who led the research said: “Our research is a major step forwards as we now know how we may be able to offer a therapy that corrects the gene mistake within kidney cells and prevent the development of genetic kidney disease.”

Challenging disease

The European study used kidney cells from patients with Joubert syndrome and a mouse model to progress the research.

Professor Sayer added: “The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment.

“We expect that we will start to test treatment of patients with exon-skipping within the next three years.”

Scientists are now looking to work with a drug manufacturing company to bring the exon-skipping technology into clinics.

Asher’s story

Teenager Asher Ahmed has Joubert syndrome and has been instrumental in helping further the research as he has provided many samples over the years, allowing the Newcastle scientists to grow kidney cells – without these the research would not have been possible.