A collaborative international study published in the renowned journal Science revealed that specific small-molecule compounds are effective in preventing spinal muscular atrophy (SMA) progression in mouse models. The study is entitled “SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular…
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To better understand spinal muscular atrophy (SMA), scientists must conduct studies using more than just cells in a culture dish. It is best to recapitulate the human body using a large animal model, but many scientists use mice due to their availability. To fill the gap of large animal…
A study published in the journal PLoS One revealed that members from specific protein families could be potential new targets for spinal muscular atrophy (SMA) therapies. The study is entitled, “Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells.” SMA is…
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…
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…
