Also known as: SMN1
England will screen all newborns for SMA after Jesy Nelson's campaign. A real-world study found Zolgensma helped children with SMA achieve motor milestones, with newborn screening leading to earlier gains.
Research from Germany and Australia shows zebrafish functional testing can identify false-positive SMA newborn screening results, preventing unnecessary treatment in rare cases where infants carry functional SMN1 gene variants.
International Rare Disease Day on February 28 underscores challenges in diagnosing and treating rare genetic conditions, with patients facing years-long diagnostic delays and geographic barriers to accessing gene therapies.
