Gerald Pfeffer

Working Group Member
Associate Professor, Clinical Neurosciences, Medical Genetics, and Neurologist, University of Calgary
Full Member of the Hotchkiss Brain Institute
NMD4C Involvement: Pillar 1: Preclinical Science, Pillar 2: Clinical Research, Theme 2: EDII
Email GeraldResearch Interests: genetics, biomarkers, microbiome, clinical research
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Biography
Dr. Pfeffer is a clinician-scientist and associate professor at the University of Calgary. He did Neurology specialty training at UBC and Genetics PhD at Newcastle University. His clinical and research work focuses on adult-onset neurogenetic conditions.
Recent Publications
Cuillerier, A, Del Gobbo, GF, Mackay, L, Wall, E, Couse, M, McDonell, LM et al.. FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium. Ann Clin Transl Neurol. 2025. PMID:40191983
Zaman, M, Sharma, G, Almutawa, W, Soule, TG, Sabouny, R, Joel, M et al.. The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation. Life Sci Alliance. 2025.8 (6) PMID:40175090
Baron, KR, Oviedo, S, Krasny, S, Zaman, M, Aldakhlallah, R, Bora, P et al.. Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation. Elife. 2025.13 PMID:39937095
Mascarenhas, R, Merrikh, D, Khanbabaei, M, Kaur, N, Ghaderi, N, Maroilley, T et al.. Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy. Epilepsia. 2025.66 (4)1234-1249 PMID:39751777
Sharkey, RJ, Cortese, F, Goodyear, BG, Korngut, LW, Jacob, SM, Sharkey, KA et al.. Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis. Brain. 2024.147 (12)4026-4032 PMID:39241118
Jacob, SM, Lee, S, Kim, SH, Sharkey, KA, Pfeffer, G, Nguyen, MD et al.. Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis. Nat Rev Neurol. 2024.20 (8)475-494 PMID:38965379
Baron, KR, Oviedo, S, Krasny, S, Zaman, M, Aldakhlallah, R, Bora, P et al.. Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation. bioRxiv. 2024. PMID:38915623
Pontifex, CS, Zaman, M, Fanganiello, RD, Shutt, TE, Pfeffer, G. Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. Int J Mol Sci. 2024.25 (11) PMID:38891822
Klein, KM, Mascarenhas, R, Merrikh, D, Khanbabaei, M, Maroilley, T, Kaur, N et al.. Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique. Epilepsia. 2024.65 (6)1768-1776 PMID:38587282
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