Hope for sufferers of rare childhood disease

Scientists as Newcastle University have taken the first step toward treating the rare childhood disease Joubert Syndrome. The disease, an inherited developmental disorder which affects the brain, kidney and eyes, currently has no cure, but this research means it is now possible to develop a therapy to help sufferers. Published in Proceedings of the National Academy of Sciences, it describes how a signalling problem causes life-threatening cystic kidney disease, which often leads to kidney failure by the age of 13. “What is crucial here is that we have shown that the kidney damage in these patients is not permanent so can be potentially treated,” said Dr John Sayer, a kidney specialist at the University and the Freeman Hospital. “In Joubert Syndrome, the kidney cells form abnormal cysts, meaning they are incapable of carrying out their role properly. We have found this happened because a defect in the cell’s antennae, called the cilium, means the kidney cells can’t communicate with each other. Using a new treatment we can restore this defect.” The research has culminated in the discovery of a drug that can correct damaged kidney cells from a patient in the laboratory. Although more testing is needed, the research has shown that abnormal cells in patients with cystic kidney disease are not permanently disabled and do respond positively to drug treatment. It might also allow for personalised medicine as treatments can be tested using mini kidney tubules grown in the laboratory from cells in a patient’s urine sample. “Joubert Syndrome is a dreadful condition that blights the lives of those who suffer from it,” said Sayer. “Hopefully this key breakthrough will provide the basis on which we can start to develop specific treatments.” As well as life-threatening cystic kidney disease, children affected by the disorder have a range of other problems including learning difficulties, movement problems and loss of eye sight. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis