News

In a recent study published in the Molecular Therapy journal, the authors report an improved method to deliver the human genetic sequence that can restore the missing SMN protein, responsible for spinal muscular atrophy, directly to the cerebral spinal fluid (CSF) via single injection. The study was entitled “…

Next Saturday, November, 8, Santa Barbara will host dozens of racers and walkers to raise both awareness and funds to support Spinal Muscular Atrophy (SMA) patients, at the annual Santa Barbara Veteran’s Day Marathon and Half Marathon. Gwendolyn Strong, a 7-year-old patient and the beneficiary of the event, dubbed the Gwendolyn…

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…

A study entitled “Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy” showed that lack of SMN leads to delayed postnatal skeletal muscle development in mouse models of spinal muscular atrophy. The study was published in the Human Molecular Genetics journal. Spinal Muscular Atrophy…

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, Adyn Bucher…

A study entitled “A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system” published in Electrophoresis describes a system for diagnosis of spinal muscular atrophy that is both fast and accurate. Spinal Muscular Atrophy (SMA) is caused by mutations…

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 atrophy (SMA)…

New insights into SMA are shedding light on the genetics that underscore the development of the disease. In a recent study entitled “EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia,” the authors found mutations in EXOSC8 that cause progressive and…

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…

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…