Answers for family as Newcastle University breakthrough finds cause for unexplained kidney failure

Helen Ford found out how a scientific discovery could improve the lives of one family affected by kidney failure

A medical breakthrough has given answers to a Northumberland family with unexplained kidney failure.

The discovery by Newcastle University means people like the Binghams can plan for the future and offers the prospect of more tailored treatment.

Two children from the family, who live in Hexham, have already experienced kidney failure but this discovery signals that 15-year-old Casper faces the same prospect.

Casper's brother Noah required a kidney transplant which subsequently failed, and his sister Ariel has also received a donor organ.

Sarah Bingham, their mother, said while the diagnosis presents a stark reality, it is nonetheless a "comfort".

She said: "When you're in a situation and you don't have any reason to understand why it's going on, and the professionals involved are saying 'this is what's going to happen but we don't know why and we don't understand the root cause of this', it can be really disconcerting and quite upsetting.

"It's like a diagnosis of 'we haven't really got a clue'."

The medical discovery was made after the family became involved in a project called 100,000 Genomes. This looks at the role of genes on health and disease.

During lockdown scientists re-examined data and analysed it in a different way - leading to a breakthrough. Credit: ITV Tyne Tees

Initially the project drew a blank for the family as computer analysis was looking for a faulty gene.

But during lockdown, while working from home, scientists re-examined the data and analysed it in a different way.

This found the condition the Bingham family has is not the result of a faulty gene, but because a certain gene is missing.

Kidneys can fail for many reasons and often there is no precise diagnosis, but scientists from Newcastle University now know it can be down to a missing gene.

Working out of the city's Centre for Life, Professor John Sayer, of Newcastle University, said: "We've inherited our genes from our parents and we're a product of our genes and the environment, and so finding this breakthrough enables us to understand why certain conditions occur because of gene deletions.

"Moving on to the implications, it unlocks important management aspects and allows us to test family members who are at risk of the disease."

Casper is now monitored closely, taking daily medication and attending the Royal Victoria Infirmary in Newcastle every six weeks.

The teenager told ITV Tyne Tees: "Normally I just feel very tired and that I can't focus very well."

He continued: "I think it's a pretty good thing because obviously I get to actually know what's coming."

As well as providing answers to those with the missing gene, the breakthrough means scientists are now exploring potential treatments for those missing vital genes.

The test could also be applied to people with other genetic conditions like blindness and deafness.

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