Spinal Muscular Atrophy (SMA) Awareness Month – Research Spotlight
Affecting approximately 1 in 10,000 live births, Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by the loss of motor neurons and progressive muscle wasting, making it the leading genetic cause of infant mortality worldwide.
August is Spinal Muscular Atrophy (SMA) Awareness Month, and we are thrilled to feature high-impact research led by members of the NMD4C community!
Published recently in Annals of Neurology, a study titled “Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy” explores the potential of early prenatal therapeutic interventions for SMA.
Key Findings:
- Prenatal administration of a risdiplam-like compound was safe for pregnant female mice.
- The progeny demonstrated increased survival, motor function, weight gain, and preserved muscle fiber area.
- Results suggest that combining early prenatal intervention with postnatal therapy may offer optimal outcomes for SMA.
A huge congratulations to Lead author Dr. Emma Sutton, and co-author Rebecca Yaworski (members of the NMD4C Basic Science Trainee Committee, BSTC), as well as our Investigators Drs. Rashmi Kothary and Hugh McMillan, and Ariane Beauvais on this work from the Ottawa Hospital Research Institute and CHEO!
This work was also made possible with the support of NMD4C, Cure SMA, Muscular Dystrophy Canada and CIHR Institute of Musculoskeletal Health and Arthritis (IMHA)
Download the full publication
Watch the Video Abstract
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NMD4C Hosts 2nd Annual Clinical Summer School at UCalgary!
On September 24. 2026 the second annual NMD4C Clinical Summer School brought together 25 neuromuscular fellows from across Canada to the University of Calgary for a day of hands-on learning, discussion, connection, and collaboration. We like thank our program sponsors FUJIFILM Sonosite for their unwavering contribution to our annual program. We would also like to thank Summer School co-leads Drs. Marianne Nury and Gordon Jewett, as well as the workshop leads Drs. Grayson Beecher, Theodore Mobach, Christopher White and Shahin Khayambashi, for their time, expertise, and commitment to educating and supporting the next generation of neuromuscular clinicians.
2027 NMD4C–RARE.Qc Basic Science Research Summer School Applications Are Now Open!
Deadline: December 1, 2026
2027 NMD4C–RARE.Qc Basic Science Research Summer School Applications Are Now Open!
The summer school offers neuromuscular and rare disease research trainees the opportunity to participate in an intensive three-day training program focused on cutting-edge experimental and translational research techniques.
