Author Archives: Patricia Silva PhD

The 19th International SMA Researcher Meeting was recently held by Cure SMA in Kansas City, Missouri (June 18-20, 2015). SMA (spinal muscular atrophy) is a rare, devastating motor neuron disease and one of the leading genetic causes of pediatric mortality, occurring in approximately 1 in every 6,000 to 10,000 newborns. It…

A study recently published in the journal Molecular Genetics and Genomic Medicine reported a new assay to assess the copy number of specific genes linked to spinal muscular atrophy (SMA) pathogenesis and disease severity. The study was led by researchers at the Nemours/Alfred I. duPont Hospital…

Researchers at the University College London in the United Kingdom recently reported the development of new mice models with intermediate clinical severity of spinal muscular atrophy (SMA). The study, published in the journal Human Molecular Genetics, is titled “Repeated low doses of morpholino antisense…

Researchers at Rockefeller University and Columbia University in New York recently reported a new technique which enabled them to identify specific molecular determinants linked to Parkinson’s disease and other neurodegenerative disorders, including spinal muscular atrophy (SMA). The study was published in the journal Nature Neuroscience and…

The 19th International SMA Researcher Meeting has been recently held by Cure SMA at Kansas City, Missouri (June 18-20, 2015). Summaries with the most relevant developments and findings presented at the meeting are currently being made available. SMA (spinal muscular atrophy) is a rare, devastating motor neuron disease…

The 19th International SMA Researcher Meeting was recently held by Cure SMA in Kansas City, Missouri (June 18-20, 2015). Cure SMA announced that summaries from the 2015 meeting will be available showing the most relevant developments and findings presented at the meeting. SMA (spinal muscular atrophy) is a rare, devastating motor…

The Annual SMA Conference organized by Cure SMA was recently held this June in Kansas City. According to a news release, six representatives out of the seven drug programs currently being assessed in clinical trials presented their work at the conference. SMA (spinal muscular atrophy) is a rare, devastating motor…

F. Hoffman-La Roche in Switzerland, PTC Therapeutics and the SMA Foundation recently provided a critical update on RG7800 safety, an investigational oral therapeutic drug currently being evaluated for the treatment of spinal muscular atrophy (SMA). SMA is a rare, devastating motor neuron disease and one of the…

A new study by an international research team characterized three new cases of a rare medical condition where spinal muscular atrophy (SMA) is associated with progressive myoclonic epilepsy (PME). The study is entitled “Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations…

A study published in the Kobe Journal of Medical Sciences revealed a new method for the diagnosis of spinal muscular atrophy (SMA) by specifically detecting deletions in the SMN1 gene. The study was led by researchers at Kobe University Graduate School…