News

Isis Pharma Receives $5 Million Milestone Payment From GlaxoSmithKline

Isis Pharmaceuticals received a $5 million milestone payment from partner GlaxoSmithKline following news of its investigational drug ISIS-GSK5Rx being granted the development candidate designation. ISIS-GSK5Rx is the second medication created as a result of the collaboration between the two companies and is an antisense drug, indicated for the treatment of an undisclosed ocular disease. Among other…

SMA Patient Adyn Bucher Hosts Benefit Rock Concert

A 10-year-old child born with spinal muscular atrophy is throwing a benefit concert in support of everyone living with this rare, genetic disease that causes progressive muscle wasting and mobility impairment. While SMA has been known to be fatal in infants, oftentimes causing death by the second year of life,…

Key Spinal Muscular Atrophy Biomarkers Discovered

A study entitled “Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy” suggests Calreticulin and GRP75/Mortalin as new protein biomarkers for spinal muscular atrophy progression. The results were published in October 2013 issue of Genome Medicine. Spinal muscular…

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…