Emanuela Pannia

Emanuela Pannia, PhD, profile picture

Research Institute, Hospital for Sick Children

Postdoc Fellowship Funding Recipient

Research Interests: neuromuscular disorders, nutrition, genetics, gene x environment, metabolism, early life programming, translational models

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Dr. Emanuela Pannia completed her undergraduate training in Behaviour, Genetics and Neurobiology (Dr. Robert Gerlai) and her PhD in Nutritional Sciences (Dr. Harvey Anderson) at The University of Toronto (2016-2021). During her PhD, she conducted pioneering research that showed excess intakes of methyl nutrients to be in utero modifiers of central (brain) and peripheral (muscle and liver) energy regulatory pathways predicting later-life health and disease risks. In parallel to her graduate training, she worked at the Zebrafish Core Facility at The Hospital for Sick Children (Toronto, Canada), which is directed and co-founded by Dr. Jim Dowling. Here, she collaborated to create zebrafish models that accurately model a wide range of neuromuscular diseases. She is currently a first-year Post-doc in Dr. Jim Dowling’s lab in the Department of Genetics & Genomic Biology at SickKids. Her project focus is on determining the environmental and genetic modifiers of liver dysfunction in X-linked myotubular myopathy using various translational models; with the overall goal of developing personalized therapeutic options to protect against this devastating disease consequence.


Dr. Pannia is one of the recipients of the NMD4C and MDC postdoctoral research fellowships for 2022, where her research will involve determining the molecular mechanisms and environmental modifiers of progressive liver disease in X-linked myotubular myopathy.

Recent Publications

Kubant, R, Cho, CE, Pannia, E, Hammoud, R, Yang, NV, Simonian, R et al.. Methyl donor micronutrients, hypothalamic development and programming for metabolic disease. Neurosci Biobehav Rev. 2024.157 105512 PMID:38128771

Endo, Y, Groom, L, Wang, SM, Pannia, E, Griffiths, NW, Van Gennip, JLM et al.. Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Hum Mol Genet. 2024.33 (3)254-269 PMID:37930228

Priestley, JRC, Deshwar, AR, Murthy, H, D'Agostino, MD, Dupuis, L, Gangaram, B et al.. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genet Med. 2023.25 (8)100863 PMID:37125634

Simonian, R, Pannia, E, Hammoud, R, Noche, RR, Cui, X, Kranenburg, E et al.. Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish. Hum Mol Genet. 2023.32 (9)1575-1588 PMID:36637428

Volpatti, JR, Ghahramani-Seno, MM, Mansat, M, Sabha, N, Sarikaya, E, Goodman, SJ et al.. X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathol. 2022.144 (3)537-563 PMID:35844027

Sarikaya, E, Sabha, N, Volpatti, J, Pannia, E, Maani, N, Gonorazky, HD et al.. Natural history of a mouse model of X-linked myotubular myopathy. Dis Model Mech. 2022.15 (7) PMID:35694952

Pannia, E, Hammoud, R, Simonian, R, Kubant, R, Anderson, GH. Folate dose and form during pregnancy may program maternal and fetal health and disease risk. Nutr Rev. 2022.80 (11)2178-2197 PMID:35442434

Pannia, E, Hammoud, R, Kubant, R, Sa, JY, Simonian, R, Wasek, B et al.. High Intakes of [6S]-5-Methyltetrahydrofolic Acid Compared with Folic Acid during Pregnancy Programs Central and Peripheral Mechanisms Favouring Increased Food Intake and Body Weight of Mature Female Offspring. Nutrients. 2021.13 (5) PMID:33925570

Hammoud, R, Pannia, E, Kubant, R, Metherel, A, Simonian, R, Pausova, Z et al.. High Choline Intake during Pregnancy Reduces Characteristics of the Metabolic Syndrome in Male Wistar Rat Offspring Fed a High Fat But Not a Normal Fat Post-Weaning Diet. Nutrients. 2021.13 (5) PMID:33923230

Hammoud, R, Pannia, E, Kubant, R, Wasek, B, Bottiglieri, T, Malysheva, OV et al.. Choline and Folic Acid in Diets Consumed during Pregnancy Interact to Program Food Intake and Metabolic Regulation of Male Wistar Rat Offspring. J Nutr. 2021.151 (4)857-865 PMID:33561219

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