Yorkshire scientists’ role in pioneering £1.3m project to tackle devastating childhood disease

Spinal Muscular Atrophy (SMA), is the childhood form of Motor Neurone Disease (MND), and is caused by a faulty gene that affects nerve cells needed to control the muscles used for moving, swallowing and breathing.

There are several types, but in the most severe cases, which affect around 50 per cent of those diagnosed, children rarely live beyond two years old – making SMA the leading genetic cause of death in babies and toddlers. In the UK, around 100 children a year are born with the disease, and one in 40 people are carriers.

The research consortium, led and funded by the charity the SMA Trust, is the first of its kind to investigate the disease, and consists of world-class research and clinical expertise based at the University of Sheffield’s Institute for Translational Neuroscience (SITraN) as well as Oxford, Edinburgh and London universities.

The project aims to improve existing treatments and identify new therapies to help people living with SMA maintain function. Methods will include using neurons grown from stem cells to gain a better understanding of how SMA affects the central nervous system.

Professor Mimoun Azzouz, chair of translational neuroscience at SITraN, said: “This is a great initiative for SMA research in the UK.

“Significant progress has been made in the field, however the creation of this consortium will bring together excellent SMA experts to further our understanding of the disease and accelerate therapy development.”

Marni Smyth, who is from Selby but now lives in Leeds where she studies textile design at university, has Type 2 SMA and has used a power wheelchair since the age of three. She needs round the clock support from a team of five PAs. She said it was a “huge step forward” to have dedicated research into the disease.

Miss Smyth, 21, who is a fundraising ambassador for the SMA Trust, said: “For me, I know I am not going to suddenly be able to walk, but research could lead to treatments that mean I can maintain how I am now. It’s also brilliant to be raising so much awareness of the condition. Because it is so rare, sometimes even GPs aren’t aware of it - this will help more people to be understanding of those with the condition.”

CEO of The SMA Trust Joanna Mitchell said: “Whilst a cure 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.”