Read NMD4C and MDC Postdoc Fellowship Recipient Dr. Emanuela Pannia’s Early-Career Blog
Read the latest early-career blog post, from NMD4C member and researcher Dr. Emanuela Pannia.
“My inspiration to pursue a research career in rare diseases stems from the loss of my sister at the early age of 12 years. At the time, she was one of North America’s first patients with a diagnosis of a rare genetic liver disease. It is through this experience that I have seen the dedication, compassion, innovation, and interdisciplinary collaboration that is needed to support patients with rare diseases, as well as their families.“
Dr. Emanuela Pannia is one of the recipients of the NMD4C and MDC postdoctoral research fellowships for 2022. She is currently a first-year Post-doc in Dr. Jim Dowling’s lab in the Department of Genetics & Genomic Biology at SickKids. Her project focus is on determining the environmental and genetic modifiers of liver dysfunction in X-linked myotubular myopathy using various translational models with the overall goal of developing personalized therapeutic options to protect against this devastating disease consequence.
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NMD4C Hosts 3rd Annual Basic Research Summer School at uOttawa!
From June 8 to 10, 2026, we hosted the 3rd annual NMD4C Basic Research Summer School at the University of Ottawa. The program supported 28 neuromuscular research trainees (graduate students and postdoctoral fellows) from across Canada and focused on developing practical skills, strengthening core knowledge in neuromuscular research, and providing opportunities to present and discuss their work. Through a combination of tutorials, lectures, hands-on workshops in cutting-edge wet lab techniques, flash talks, and both structured and informal networking, participants engaged with faculty, exchanged ideas, and built connections across institutions and career stages.
New Publication from the NMD4C Clinical Trial Network Strengthens Trial Capacity in Canada
We are pleased to share a new publication from the NMD4C Clinical Trial Network led by Kerri Lynn Schellenberg, Homira Osman, Maria Masnata, Rhiannon Hicks, Corinne Kagan, Ana Stosic, Stacey Lintern, Erin Beattie, Drs. Hanns Lochmüller, Craig Campbell, and Jean K Mah. This work focuses on the implementation of a coordinated Canadian neuromuscular clinical trial network to enhance trial readiness, capacity, and access in rare disease research.
Canadian-Led Phase II Studies Advance Vamorolone Evidence in Duchenne Muscular Dystrophy
NMD4C investigators contributed to two phase II studies evaluating vamorolone in boys with Duchenne muscular dystrophy across early childhood and adolescence, demonstrating safety, favorable pharmacokinetics, and potential efficacy. Led by Dr. Jean Mah and conducted across Canadian clinical trial sites with national and industry collaborators, the findings supported Health Canada approval of vamorolone as the first treatment for DMD in Canada. Leaders from both the clinical and patient advocacy communities, including Defeat Duchenne Canada, highlighted the impact of collaboration among patients, families, clinicians, and researchers in advancing care and improving access to new therapies.