Sophie Karolczak
Clinical Trial Manager
Neuromuscular Disease Network for Canada (NMD4C)
Muscular Dystrophy Canada (MDC) | Research and Policy Analyst
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Biography
Dr. Sophie Karolczak, is a Research and Policy Analyst at Muscular Dystrophy Canada.
She recently completed her PhD working on an ultra-rare disease, earning her PhD in 2025 in Molecular Genetics at the University of Toronto, where she researched liver complications associated with X-linked myotubular myopathy in James Dowling‘s lab at Sickkids. Previously, she earned her Bachelor’s degree in 2020 at Wesleyan University (Connecticut, USA) in Molecular Biology and Biochemistry. She has also worked in the biotech industry at CRISPR Therapeutics, where she was part of preclinical programs for sickle cell anemia and myotonic dystrophy.
At Muscular Dystrophy Canada, Sophie is supporting multiple research initiatives, including tracking therapeutic development and clinical trial progress for neuromuscular diseases. Sophie is passionate about rare disease research and breaking down barriers to treatment and access.
In 2026, Sophie joined the NMD4C as our Clinical Trial Network‘s Manager and supports our Clinical Trial Database.
Recent Publications
Pannia, E, Simonian, R, Sabha, N, Maani, N, Zhu, Y, Karolczak, S et al.. AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy. Sci Transl Med. 2026.18 (837)eadr1483 PMID:41706871
Karolczak, S, Deshwar, AR, Aristegui, E, Kamath, BM, Lawlor, MW, Andreoletti, G et al.. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. J Clin Invest. 2023.133 (18) PMID:37490339
Drum, ZA, Lanno, SM, Gregory, SM, Shimshak, SJ, Ahamed, M, Barr, W et al.. Genomics analysis of hexanoic acid exposure in Drosophila species. G3 (Bethesda). 2022.12 (1) PMID:34718544
Maani, N, Karolczak, S, Dowling, JJ. Genetic therapy for congenital myopathies. Curr Opin Neurol. 2021.34 (5)727-737 PMID:34267051
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