Neurogenetic and Muscular Disorders Research

Spinal muscular atrophy arises when mutations in the *SMN1* gene deprive motor neurons of sufficient survival motor neuron protein, causing progressive muscle weakness that, in its severest form, is fatal in early childhood. A second, nearly identical gene, *SMN2*, partially compensates but produces mostly non-functional protein — a quirk that researchers have turned into a therapeutic target, most notably through nusinersen, an antisense oligonucleotide that redirects *SMN2* splicing to boost functional protein output, and through viral gene replacement therapies that deliver a working copy of *SMN1* directly. Current work is probing why some neurons and muscle synapses remain vulnerable even after SMN levels are restored, and whether combining gene therapy with small molecules or early neonatal intervention can push outcomes closer to full neurological preservation.

Works

44,371

Total citations

465,545

Keywords

Spinal Muscular AtrophySMN1NusinersenGene Replacement TherapyMotor NeuronSMN2