Catherine Choueiri
Research Assistant
Email CatherineAfter graduating with an HBSc degree in Biology from Western University, Catherine completed her Master’s in Cellular and Molecular Medicine with a specialization in Human and Molecular Genetics under the supervision of Dr. Lochmüller. Her Master’s research, now published in Human Molecular Genetics, led to the development of a zebrafish model of riboflavin transporter deficiency – the first in vivo vertebrate model of this disease – that reflects the clinically-observed response to high-dose riboflavin supplementation and thus serves as a promising avenue for further high-throughput drug screening. Following the completion of her Master’s, Catherine is continuing to develop and employ zebrafish models of RTD and other neuromuscular disorders in the search for novel therapeutic strategies that could revolutionize the clinical journeys of patients with these detrimental diseases.

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Recent publications
Choueiri, CM, Lau, J, O'Connor, E, DiBattista, A, Wong, BY, Spendiff, S et al.. Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish. Hum Mol Genet. 2025.34 (3)265-276 PMID:39656631
Della Marina, A, Hentschel, A, Czech, A, Schara-Schmidt, U, Preusse, C, Laner, A et al.. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. J Neuromuscul Dis. 2024.11 (3)625-645 PMID:38578900
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