19:20 GMT 23 MarchScotland becomes first in UK to test newborns for rare genetic condition, published at 19:20 GMT 23 MarchScotland becomes first in UK to test newborns for rare

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📰 UK

19:20 GMT 23 MarchScotland becomes first in UK to test newborns for rare genetic condition, published at 19:20 GMT 23 MarchScotland becomes first in UK to test newborns for rare 3d ago

BBC

Scotland has become the first UK nation to implement newborn screening for Spinal Muscular Atrophy (SMA), a rare genetic condition that causes progressive muscle weakness and can significantly reduce life expectancy. Starting March 23, all babies born in Scotland will undergo a heel prick test to detect SMA, enabling early intervention and potentially life-changing treatment. This initiative, part of a two-year pilot, aims to inform wider UK rollout by assessing the efficacy of pre-symptomatic detection. The move follows advocacy from parents like Carrie and Tony Pearson, whose daughter Grayce was diagnosed late, and singer Jesy Nelson, whose twin daughters have SMA type 1. Early diagnosis is crucial as nerve cell death impacts treatment outcomes, and timely gene therapy can prevent or minimize symptoms, offering affected children a significantly improved quality of life.

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