A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...

Risdiplam works by targeting the SMN2 gene to induce increased production ... According to a press release, both parents in the case were carriers of SMA genetic variants, and they previously ...

In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for ...