Researchers at the University of Manchester have identified a rare genetic mutation that causes severe nerve damage in children following mild infections. Their findings revealed that changes in a gene called RCC1 can set off a devastating neurological reaction to otherwise minor illnesses, such as the flu or common stomach bugs.   

Solving a 25-year mystery  

This breakthrough brings long-awaited answers to families like that of Timothy Bingham, who have spent years awaiting answers. At just 2 years old, Timothy became unable to walk after contracting a mild
flu-like illness. 3 years later, another infection left him paralysed. 

Kate Bingham, mum of Timothy, explained: “About 25 years ago Tim got a flu like infection and a temperature. What seemed like a minor illness had devastating consequences. The attack, and subsequent attacks, did terrible damage. First to his legs, then his arms, his face, and his chest and now he needs 24-hour care. His diaphragm barely works at all.”  

In 2011, doctors at Royal Manchester Children’s Hospital encountered a similar case involving an
8-month-old girl who became reliant on a ventilator to breathe following a mild chest infection. Her 2 brothers had also experienced severe symptoms after falling ill with what should have been mild infections, prompting researchers to investigate a genetic cause.  

University of Manchester researchers have since discovered mutations in the RCC1 gene in an additional 20 children from 10 families across the UK, Türkiye, Czechia, Germany, Iran, India, Saudi Arabia, Cyprus, and Slovakia, all of whom developed a severe nerve condition triggered by mild infections. 

Using skin cells from patients and genetically engineered fruit flies, researchers showed that the cells impacted by the RCC1 mutation resemble those in people with motor neuron disease, where muscles progressively weaken. 

“For so long we have lived with the uncertainty of not knowing the full picture. This breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future.”

Kate Bingham, mum of Timothy

This research received funding from LifeArc’s Pathfinder Award, the National Institute for Health and Care Research (NIHR) and the Wellcome Trust, and findings have been published today (Wednesday 16 July) in The Lancet Neurology.   

Sam Barrell, CEO of LifeArc, shared, “This discovery provides a potential target for treatment and the first step towards delivering a brighter future for people that could be living with this same devastating condition.”