News

C9orf72 Gene Role Analyzed in Spinal Muscular Atrophy

A recent study entitled “Analysis of the C9orf72 gene in spinal muscular atrophy patients” published in the Amyotrophic Lateral Sclerosis and Frontotemporal Degenerations journal shows no association between a ALS  hexanucleotide repeat in the C9orf72 gene with SMA phenotype. Two of the most common motor neuron diseases…

Newly-Identified miR-183/mTOR Pathway Contributes to SMA

A recent study entitled “SMN regulates axonal local translation via miR-183/mTOR pathway” and published in Human Molecular Genetics journal identifies a new SMN regulated target – the miR-183/mTOR pathway – that contributes to Spinal Muscular Atrophy. Spinal Muscular Atrophy (SMA) is caused by mutations in…

ISIS-SMN Rx Shows Efficacy in Infants with SMA During Phase 2 Studies

Encouraging news from Isis Pharmaceuticals, Inc., presented at the 19th International World Muscle Society Congress in Berlin, demonstrated the efficacy of ISIS-SMNRx in treating spinal muscular atrophy (SMA) in infants and children. Results were from the ongoing open-label Phase 2 clinical trial. Isis is also enrolling patients in the…