News

Boost for baby muscle research

Medical experts are joining forces to bolster research into a rare, inherited muscle-wasting disease that affects young children.

A £1.3 million research initiative aims to find new treatments for spinal muscular atrophy (SMA) - a neurodegenerative condition that affects babies and toddlers.

The disease is similar to Muscular Dystrophy and Motor Neurone Disease.

Collaboration

The research consortium will be led jointly by the Universities of Edinburgh and Oxford.

It has been funded by The SMA Trust - the only UK charity solely focussed on funding research into finding a cure and treatments for SMA.

The new UK Consortium will act to speed up the development and testing of new drugs and treatments for spinal muscular atrophy. I am delighted that the University of Edinburgh is contributing to this important network, allowing us to embed our research into the new national framework.

Professor Tom GillingwaterEuan MacDonald Centre for Motor Neurone Disease Research

Therapies

It is the first major collaboration for the study of SMA involving researchers across the UK.

Researchers will advance investigations of existing drug targets and identify new therapies that maintain nerve function in children affected by SMA.

They also hope to identify improved ways of delivering treatments in order to maximise benefit throughout the body.

Whilst a cure for SMA remains the ultimate goal, we also recognise that, for the time being, ‘success’ is equally likely to come in the form of combinations of treatments that improve the quality of life of people living with SMA.

Joanna MitchellChief Executive Officer, The SMA Trust

Spinal Muscular Atrophy

SMA - also known as floppy baby syndrome - is the leading genetic cause of death in young children. The disease affects movement, swallowing and breathing.

Around 100 babies are born with the disease in the UK each year. In around half of cases, children do not survive beyond two years of age.

Faulty gene

SMA is caused by a faulty gene that affects nerve cells that control muscles.

Children affected by the condition inherit two copies of the faulty gene - one from each parent.

One in 40 people carry a single copy of the faulty gene but do not have the disease.

Studies

Research at the University will be led by Professor Tom Gillingwater in the Euan MacDonald Centre and Professor Catherina Becker in the Centre for Neuroregeneration.