Perhaps the result of a gene duplication event 5 million years ago, humans have two copies of the gene for survival motor neuron (SMN). Patients with spinal muscular atrophy (SMA) lack SMN1 and have a missing piece of transcript from SMN2. Although SMN protein produced from SMN2 is shortened…
After working for 30 years funding research projects dedicated to spinal muscular atrophy (SMA) and facing the challenges related to it, Cure SMA is launching a new booklet to assist in the introduction of the research process. “Advancing…
The oil and gas company Newfield Exploration awarded a $2,500 grant to nonprofit organization Cure SMA. The funding will be invested in Cure SMA’s main mission of supporting both patients and families who suffer the burden of spinal muscular atrophy (SMA) as well as research projects working to…
Cure SMA has expanded its research program focused on finding treatments and a cure for spinal muscular atrophy (SMA) by providing an additional $315,000 in funding to support drug discovery at the California Institute of Biomedical Research (CALIBR). The grants aim to accelerate a research project…
Dallas, Texas-based AveXis, Inc., a biotechnology company currently developing an experimental therapy for Spinal Muscular Atrophy (SMA) through the use of innovative gene therapy, recently announced that they have established a European Union (EU) based wholly-owned subsidiary called AveXis EU, Ltd. This subsidiary will be used by AveXis to advance development of its…
“This is an exciting time for spinal muscular atrophy (SMA) patients, families and researchers,” indicated an article published in the journal F1000Prime Reports. “Not only are multiple clinical trials based on sound preclinical data completed, underway or planned, we also are rapidly gaining a better…
A team of Chinese researchers published their findings in the journal BMC Musculoskeletal Disorders where they show that the copy number of genes related to spinal muscular atrophy (SMA) differs between individuals and influences disease severity. The study is entitled “Molecular characterization and copy…
Specific gene mutations can help shed light on the possible causes of diseases such as spinal muscular atrophy (SMA). Several genes have already been associated with the disorder. SMA is a genetically-determined neuromuscular disorder characterized by loss of specific spinal cord neurons, which causes weakness of the limbs and muscle degeneration. This leads…
In an exclusive interview, SMA News Today Senior Columnist Maureen Newman spoke with Dr. Adrian Krainer of Cold Spring Harbor Laboratory. In conjunction with Isis Pharmaceuticals, Dr. Krainer and his team are making promising strides into better understanding how SMA works. In January, Dr. Adrian Krainer of Cold Spring Harbor Laboratory…
The first report of co-existing spinal muscular atrophy (SMA) with diabetes mellitus type 1 appeared in the journal Acta Biochemica Polonica, February 12, 2015. The report, titled “Coexistence of type 1 diabetes mellitus and spinal muscular atrophy in an 8-year-old girl: a case report,” came from…
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