25/03/2026
You may have seen in the news that Spinal Muscular Atrophy (SMA) newborn screening is now available across Scotland. But, what is SMA and why is this important – Professor Simon Parson, Regius Professor of Anatomy at the University of Aberdeen, is a world-leading expert on the subject and has been part of the campaign to make newborn screening available across Scotland.
Professor Parson explains: "SMA is an inherited form of Motor Neuron Disease which most commonly targets children, but critically, it is treatable.
"New born screening is essential to ensure that babies who are affected are identified as soon as possible, as the quicker treatment begins, the better the outcomes will be. It really is a case of 'every day matters'.
"If children are not treated they are unlikely to survive to their 3rd birthday, but with treatment their survival and future quality of life will be dramatically improved.
"This 2 year pilot programme in Scotland is a joint venture between the Scottish Government and the pharma company Novartis. In addition to the importance for Scotland, it is also a pilot project for introduction of newborn screening across the UK.
"I have been researching SMA for almost 20 years now, and the progress has been phenomenal. I am especially focused on manifestation of the disease beyond the motor neuron, which will become increasingly important in this post-therapeutic landscape, as we seek to continue to improve long-term outcomes for these children.
"I am delighted to see our campaigning efforts have been recognised by the Scottish Government with the launch of NBS for SMA across the country today. However, this is just the beginning, we still have work to do to ensure that we catch this devastating illness at the earliest opportunity right across the UK. This news is a critical step, and my research continues to aim to further improve the lives of all those living with it.
You can read the BBC article about SMA screening here http://abdn.io/24Q
