Alex MacKenzie

Alex MacKenzie

Co-Applicant

Professor of Pediatrics, uOttawa | Pediatrician, CHEO

Senior Scientist, CHEO Research Institute


NMD4C Involvement: Pillar 1: Preclinical Science

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Biography

Alex MacKenzie is an attending pediatrician at the Children’s Hospital of Eastern Ontario in Ottawa, Canada and Professor of Pediatrics at University of Ottawa. Dr. MacKenzie’s laboratory conducts translational research on therapies for rare neurogenetic diseases


Recent Publications

Medina, G, Baird, SD, Rodriguez-Alcocer, LA, MacKenzie, AE. DHA-dominant Omega-3 compositions enhance PSD-95 organization and glutamatergic protein expression. Front Synaptic Neurosci. 2026.18 1947075 PMID:42840050

Medina, G, Rodriguez-Alcocer, LA, Baird, S, MacKenzie, AE. Human Neuronal Modeling of DLG4-Related Synaptopathy Reveals Network Dysfunction and Partial Rescue by Omega-3 Fatty Acid Docosahexaenoic Acid (DHA). Cells. 2026.15 (18) PMID:42782788

Chow, AJ, Jordan, I, Pallone, N, Smith, M, Chakraborty, P, Brehaut, J et al.. The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study. Orphanet J Rare Dis. 2026.21 (1) PMID:42271415

Russell, B, Stewart, D, Devon, K, Mallette, K, Ehlebracht, A, Mimeault, R et al.. 2025 Canadian Surgery Forum: Sept. 17-20, 2025. Can J Surg. 2025.68 (6suppl2)S27-S57 PMID:41371938

Iraqi, I, Ng, P, Chen, X, Cushen, N, Gottowik, J, Herzig, D et al.. Feasibility of a Home-Based Exergaming Intervention for Youth With Spinal Muscular Atrophy. Muscle Nerve. 2025.72 (6)1259-1264 PMID:40990108

Pace, A, Roda, W, Poon, C, McMillan, HJ, Oskoui, M, MacKenzie, A et al.. A cost-utility analysis of newborn screening for spinal muscular atrophy in Canada. Orphanet J Rare Dis. 2025.20 (1)428 PMID:40804727

Pace, AC, Poon, C, Chakraborty, P, Oskoui, M, McMillan, H, Mackenzie, A et al.. Systematic review for economic evaluations on newborn screening for spinal muscular atrophy. J Neuromuscul Dis. 2025.12 (5)619-629 PMID:40400315

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

McMillan, HJ, Gonorazky, H, Campbell, C, Chrestian, N, Crone, M, Dowling, JJ et al.. Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies. Can J Neurol Sci. 2024. 1-3 PMID:39534980

Mercier, E, D'Aoust, PM, Renouf, E, Tomalty, E, Addo, FG, Nguyen, TB et al.. Effective method to mitigate impact of rain or snowmelt sewer flushing events on wastewater-based surveillance measurements. Sci Total Environ. 2024.956 177351 PMID:39489448

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