Alexa Derksen

Alexa Derksen

MD/PhD Student | Department of Cellular and Molecular Medicine, University of Ottawa

CHEO Research Institute, Ottawa, Ontario, Canada.


NMD4C Involvement: 3rd Place, Signals That Move Us: Image Competition Winner (2026)

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Research Interests: GNE myopathy

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Biography

Alexa is an MD/PhD student at the University of Ottawa, currently completing the PhD portion of her degree in the laboratory of Dr. Hanns Lochmüller, where she studies GNE myopathy. She completed her undergraduate studies in Biology at Carleton University, conducting an honours thesis investigating Parkinson’s disease in a mouse model. Following graduation, she moved to Montréal to pursue a Master’s in Neuroscience at McGill University, where she studied the genetic causes of rare pediatric neurodevelopmental and neurodegenerative disorders.

In 2026, her neuromuscular image won 3rd place in our inaugural image competition, Signals That Move Us.


Recent Publications

Michell-Robinson, MA, Perrier, S, Gauthier, S, Derksen, A, Sabbagh, Q, Girbig, M et al.. Comprehensive genotype-phenotype analysis in POLR3-related disorders. HGG Adv. 2025.6 (4)100481 PMID:40684265

Derksen, A, Thompson, R, Shaikh, M, Spendiff, S, Perkins, TJ, Lochmüller, H et al.. Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. Hum Mutat. 2024.2024 7377504 PMID:40225917

Manis, C, Casula, M, Roos, A, Hentschel, A, Vorgerd, M, Pogoryelova, O et al.. Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy. Molecules. 2024.29 (21) PMID:39519852

Stafki, SA, Turner, J, Littel, HR, Bruels, CC, Truong, D, Knirsch, U et al.. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatr Neurol. 2023.141 79-86 PMID:36791574

Mirchi, A, Derksen, A, Tran, LT, De Bie, I, Nadeau, A, Lovett, A et al.. A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders. Neurogenetics. 2022.23 (4)271-274 PMID:35920923

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