Dr Susan Campbell is investigating whether a recently discovered molecule could pave the way to faster, less invasive diagnosis for a rare and devastating brain condition, Vanishing White Matter Disease (VWM), where nerve fibres are damaged and depleted.
Why this research is vital
While children with Vanishing White Matter Disease (VWM) often develop normally as babies, the condition begins to take hold between two and six years of age often leading to loss of life.
Symptoms include trouble moving, episodes of fever, muscle spasms, seizures, mental decline and drowsiness. VWM disease affects around 45 children in the UK each year. Currently, these children face a long journey to diagnosis including a variety of scans and invasive tests.
Our brains are wired by a vast network of nerve fibres – our ‘white matter’. Messages are passed along these fibres, giving instructions to our muscles and organs, so they’re pretty important! That’s why each of these nerve fibres has a coating that protects the nerve and helps to ensure the electrical messages which they carry pass efficiently and effectively – a bit like the insulation on the outside of electrical cables.
Diseases of white matter are known as leukoencephalopathies. One such disease, that often occurs in childhood, is Vanishing White Matter Disease (VWM).
VWM disease is a devastating condition where children have a deterioration in both their nerves and the protective coating, leading to a range of debilitating symptoms and often, death.
Many rare diseases are caused by faults in the body’s instruction manual – DNA. Research has recently uncovered the mistakes that lead to VWM disease; while it seems, each child has slightly different genetic faults causing their disease, they all lead to a problem with one single molecule.
Dr Susan Campbell and her team at Sheffield Hallam University want to understand more about the genetic mistakes and their effects on the body. They believe the genetic mistake leads to a problem with a molecule that helps produce proteins – the building blocks inside each of cells, which may help keep nerves healthy.
They also think the genetic mistakes affect the way the molecule is produced and distributed inside cells – something that seems to be unique to this disease.
Impact of this project
Currently, children with VWM disease face a long journey to diagnosis including a variety of scans and invasive tests. Dr Campbell and her team hope that this work will lead to a better, faster and more effective way of diagnosing the condition, with just a simple skin biopsy. Improving understanding of the cause of VWM disease would also help to find new ways to treat the condition and save lives.
This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through their national research funding call.