Researchers have understood the genetic basis of spinal muscular atrophy (SMA) for many years. Mutations in the gene that encodes the protein survival motor neuron (SMN1) are the most usual cause of disease, as a mutation leads to a deficiency of SMN. Without this protein, motor neurons die, leading to…
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…
In a recent study published in the journal Stem Cells Translational Medicine, a team of researchers from the Cedars-Sinai Board of Governors Regenerative Medicine Institute have employed a gene-editing method that uses low-dose irradiation to edit the genome of patients’ stem cells. According to the study results, this strategy…
Studies conducted on mouse models of spinal muscular atrophy (SMA) have led scientists to believe that it is imperative to receive treatment as early as possible, even as soon as the child is born. Knowing this, the SMA research community has begun working on ways to establish newborn screening (NBS)…
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…
A team of researchers from the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) recently published a study that suggests fruit flies and brewer’s yeast can shed light on the root of Spinal Muscular Atrophy, today’s leading genetic cause of death among infants. This debilitating,…
Isis Pharmaceuticals recently announced it received $2.15 million from Biogen to advance CHERISH, the ongoing pivotal Phase 3 study assessing ISIS-SMNRx in children suffering with spinal muscular atrophy (SMA). Isis has now received over $120 million from Biogen to advance this investigational therapy. CHERISH a Phase 3 ISIS-SMNRx study; it is a double-blinded, randomized, 15 month study in almost 120…
During the 2015 Cure SMA Researcher Meeting, a number of novel studies focusing on Spinal muscular atrophy (SMA) were presented under the topic “Emerging Trends in Motor Neuron Pathobiology.” SMA is neurodegenerative disease caused by a genetic defect in the Smn1 gene (short for spinal motor neuron-1). This alteration results in the loss of…
