Newcastle University scientists have made a first step towards treating rare childhood disease

Experts at Newcastle University have made a breakthrough in the development of treatment for children with Joubert Syndrome

Dr John Sayer, a kidney specialist at Newcastle University and Newcastles Freeman Hospital
Dr John Sayer, a kidney specialist at Newcastle University and Newcastles Freeman Hospital

Scientists in the North East have made a major breakthrough in treating a rare childhood disease which leads to kidney failure and death in youngsters.

Experts at Newcastle University have found it is possible to develop a therapy to help those suffering with the incurable condition, Joubert Syndrome, an inherited disorder affecting the brain, kidneys and eyes. It is estimated that around one in 100,000 babies are born with the condition.

Children affected by the illness have a range of problems including learning difficulties, movement problems, loss of eyesight and life-threatening cystic kidney disease, often leading to total kidney failure by the age of 13.

Dr John Sayer, a kidney specialist at Newcastle University and Newcastle’s Freeman Hospital, and Dr Colin Miles, a geneticist at the Institute of Genetic Medicine, Newcastle University, have discovered a cell signalling problem which causes cystic kidney disease in Joubert Syndrome. It is a breakthrough in the development of treatment for those with the life-threatening illness.

Dr Sayer said: “It is an exciting development. What is crucial here is that we have shown that the kidney damage in these patients is not permanent and so can potentially be treated.

“In Joubert Syndrome, the kidney cells form abnormal cysts, meaning they are incapable of carrying out their role properly. We have found this happens because a defect in the cell’s antenna, called the cilium, means the kidney cells can’t communicate with each other properly. Using a new treatment we can restore this defect.

“Newcastle University and the Centre for Life is world-class, carrying out research with leading scientists and resources available.”

A child suffering from the disorder can expect to spend up to 12 hours a day on dialysis, impacting upon their quality of life.

Mother-of-two Leanne Buckley, of Whitley Bay, knows all too well the problems faced by those with Joubert Syndrome as her children Emma, six, and Benjamin, three, both have the illness and suffer a range of medical issues. Both youngsters are blind, unable to walk or talk and are fed through a peg into their stomach, Emma also suffers from epilepsy and is on dialysis.

Michael and Leanne Buckley with their children Emma and Benjamin
Michael and Leanne Buckley with their children Emma and Benjamin
 

Leanne, 29, who is married to Michael, 36, a postman, said: “We want more children so it’s great to know that a breakthrough in treatment has been made. It’s really exciting and gives us hope.

“This research is a real boost for us. I would be willing to try any new treatment if it meant that my children’s quality of life would be improved.”

Eight years of research has resulted in the discovery of a drug that can correct the damaged kidney cells from a patient in the laboratory.

Whist further research and testing is still needed, the work of doctors Sayer and Miles demonstrate that the abnormal cells in patients with cystic kidney disease do respond positively to drug treatments. It also allows for personalised medicine approaches as treatments can be tested using cells obtained from a patient’s urine sample, which are grown in the lab to form mini kidney tubules.

Dr Sayer added: “Joubert syndrome is a dreadful condition that blights the lives of those who suffer from it. Hopefully this key breakthrough will provide the basis on which we can start to develop specific treatments.”

The new findings have been published in the journal Proceedings of the National Academy of Sciences.

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