Spinal muscular atrophy (SMA) is among the many motor neuron diseases that have no cure. One reason for the lack of cures is the inexistence of reliable in vitro disease models to be used as platforms for research and development of new drugs. This is partially attributed to the difficulty in…
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A study published in the journal Human Mutation revealed new genetic mutations in a domain of a dynein gene. The study, entitled “Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies,” unlocks new insights into motor neuron…
Isis Pharmaceuticals, Inc., a drug development company using RNA-targeted technology to develop novel drugs for the treatment of cardiovascular, metabolic, severe and rare diseases such as spinal muscular atrophy (SMA), has been invited to present its pipeline of therapeutic products at three conferences within the next few months, according to a press release from…
Francesco Lotti (https://www.curesma.org/news/grant-francesco-lotti.html) Francesco Lotti, PhD from Columbia University was recently awarded $140,000 in funding from Cure SMA to support the researcher’s current project, entitled “Role of Sumoylation in SMN Function and SMA Pathology.” SMN, which stands for “survival motor neuron,” is a protein crucial to the functioning of the nerves…
“Mo” the Monkey Conducting clinical trials with pediatric patients is always a challenge, as the age of participants adds additional barriers to the successful completion of a scientific study, as well as adds immense stress on both the child and parents. This is particularly true with Type 1 Spinal Muscular…
Pfizer and Repligen have ended their partnership focused on developing therapeutic options for the treatment of spinal muscular atrophy (SMA), according to a news report from GEN and other news outlets. The collaboration was worth up to $70 million, but was ended by Pfizer…
Albany Molecular Research (AMRI), a contract research and manufacturing organization that provides drug discovery, development, cGMP manufacturing and aseptic fill and finish to the pharmaceutical and biotechnology industries, recently announced it has been granted a 10-year federal contract award care of the National Institutes of Health (NIH) to secure their drug development…
A team of researchers from Denmark found that a cycle training program was able to modestly improve oxidative capacity in patients with Spinal Muscular Atrophy type III. Spinal muscular atrophy (SMA) is a motor neuron disease characterized by an autosomal recessive disorder that is caused by inherited mutations in the survival motor neuron…
Shown here are spinal sections from three different mice with spinal muscular atrophy. Systemic drug treatment (middle panel) increases the presence of motor neurons (red spots) over the untreated mice (left panel). Surprisingly, the results are very similar when treatment is excluded from the central nervous system…
A recent review explored the current evidence regarding the genetic mechanisms implicated in Spinal Muscular Atrophy and its potential applicability for the development of treatments. The review entitled “The Genetics of Spinal Muscular Atrophy: Progress and Challenges” recently published in the journal Neurotherapeutics, was conducted…
