Scientists have successfully found ways of making deliberate alterations to the DNA sequence at the targeted locations in the genome. This can include deleting, inserting, or replacing sections of DNA.
According to the scientists from the Institute of Genetic Medicine at Newcastle University in the UK, the treatment and delivery of the gene editing were initially difficult. However, the researchers were able to find a new way for the particular mutation that causes kidney damage. They were able to bypass the mutation in both cell model, and the mouse model of the rare genetic disease said to be Joubert syndrome.
Joubert syndrome is an inherited brain disease that causes damage to many parts of the body and can cause different degrees of physical and mental impairments, as well as visual problems. Kidney disease also occurs in one-third of patients, most commonly in those with a faulty CEP290 gene. Kidney transplantation is required for the patients who are affected by this syndrome, leading to kidney disease.
The researchers at Kidney Research UK, have grown the kidney cells with the faulty CEP290 gene and performed a technique called exon skipping. The strand of engineered DNA is used to cover up the faulty part of the gene. From this process, a mutated form of the gene is found when the DNA sequence is transcribed by the cell.
In genetic kidney disease, the detection of the hidden gene defect and the treatment to be provided is a major challenge. Researchers from the Institute of Genetic Medicine are able to edit the genetic mistakes that are leading to help diagnose inherited kidney diseases successfully. As the next step, they are moving forward in testing this technology in other mouse models before moving into patient studies. They expect that they will start to examine the treatment of patients with exon skipping in the next three years. Researchers are now communicating with drug companies to take the new technology into the clinic.