Sally Spendiff

Research Associate, CHEO Research Institute

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Sally completed her PhD in the Mitochondrial Research Group in Newcastle, UK in 2012 under the supervision of Professors Doug Turnbull and Hanns Lochmüller. Her thesis examined the presence of mitochondrial DNA deletions in muscle stem cells (satellite cells) in patients with mitochondrial myopathies.

Following her PhD, she moved across the Atlantic to Montreal to begin what would be a 4-year post-doctoral position with Professors Tanja Taivassalo and Russell Hepple, at first at McGill University and then at the McGill University Health Centre. Initially she worked on projects examining the role of mitochondria in clinical conditions (e.g COPD) and ageing, and later moved on to explore the role of neuromuscular junction (NMJ) stability in ageing. In 2016 she returned to the UK and Newcastle to work with Professor Lochmüller on a project to test novel treatments for patients with congenital myasthenic syndromes (disorders of the NMJ).

Sally is extremely excited to have returned to Canada and to be helping Professor Lochmüller set up his lab in Ottawa.

Sally Spendiff

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Recent publications

Holland, SH, Carmona-Martinez, R, Hentschel, A, Derksen, A, O'Connor, K, O'Neil, D et al.. Hexosamine Pathway Disruption by GFPT1 Loss Drives Coordinated Defects in Glycosylation, Autophagy, and Trafficking. Biomolecules. 2026.16 (7) PMID:42509760

Manis, C, Pertusati, F, Morewood, J, Roos, A, Kleefeld, F, Onali, M et al.. Bis(monoacylglycero)phosphate (BMP) as a circulating biomarker of lysosomal dysfunction in GNE myopathy. Clin Chim Acta. 2026.593 121244 PMID:42501775

Malaichamy, S, Polavarapu, K, Thompson, R, Idoux, R, Spendiff, S, Karcagi, V et al.. Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene. J Neurol. 2026.273 (8) PMID:42474733

Ho, K, Adjei-Afriyie, O, Carmona-Martinez, R, Ray, R, O'Neil, D, Zeldin, J et al.. Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes. Brain Commun. 2026.8 (3)fcag115 PMID:42146855

Holland, SH, Carmona-Martinez, R, O'Neil, D, Ho, K, O'Connor, K, Azuma, Y et al.. Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice. Hum Mol Genet. 2025.34 (21)1765-1779 PMID:40879313

Spendiff, S, Lochmüller, H, Maselli, RA. Congenital myasthenic syndromes. Int Rev Neurobiol. 2025.182 253-274 PMID:40675739

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

Malaichamy, S, Idoux, R, Polavarapu, K, Šikić, K, Holla, E, Thompson, R et al.. Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle. Brain. 2025.148 (8)2869-2882 PMID:39970126

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

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

Holland, SH, Carmona-Martinez, R, O'Connor, K, O'Neil, D, Roos, A, Spendiff, S et al.. A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ). Biomolecules. 2024.14 (10) PMID:39456185

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480

O'Connor, K, Spendiff, S, Lochmüller, H, Horvath, R. Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease. Int J Mol Sci. 2023.24 (10) PMID:37239850

Pugliese, A, Holland, SH, Rodolico, C, Lochmüller, H, Spendiff, S. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. J Neuromuscul Dis. 2023.10 (5)731-759 PMID:37212067

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