Assistant Professor

Jessie Cameron

Department of Laboratory Medicine & Pathobiology


Hospital for Sick Children (SickKids)
Metabolic Disease Lab, DPLM, 555 University Avenue, Toronto, Ontario Canada M5G 1X8
Research Interests
Metabolism & Nutrition
Clinical Interests
Medical Biochemistry, Molecular Genetics
Appointment Status

Professional Memberships

  • Canadian College of Medical Geneticists (CCMG)

Dr. Jessie Cameron is a Biochemical Geneticist and lab director of the Metabolic Disease lab in The Hospital for Sick Children.

She obtained her PhD from University College London, England, and has worked at The Hospital for Sick Children for over 20 years.

Prior to her current role, she worked as a postdoctoral graduate and then a Research Associate in the lab of Dr Brian Robinson which has served as a pivotal hub for the study and diagnosis of mitochondrial disease in Canada for over 35 years.


Research Synopsis


My main area of focus has been the identification of novel mitochondrial inborn errors of metabolism.

I have worked extensively on many known mitochondrial disease genes, identifying new mutations and further characterizing established diseases. My research has always been tightly connected with clinical diagnosis. I have had success in identifying novel diseases based on researching clinical and phenotypic data, and applying my knowledge of mitochondrial pathways to determine which experimental techniques will best identify key information.

I have identified the first patients in the world for four diseases: PDP1 deficiency, affecting the activation of pyruvate dehydrogenase complex; NFU1 and BOLA3 deficiencies, affecting the iron-sulfer cluster biogenesis pathway, which has implications on many aspects of mitochondrial function, including both respiratory chain and 2-oxoglutarate dehydrogenase complex functioning and AGK deficiency, a novel cause of 3-Methylglutaconic Aciduria affecting mitochondrial signalling and phospholipid biosynthesis.

I have identified the second patients in the world for two other diseases, TMEM70, another form of 3-Methylglutaconic Aciduria affecting ATP synthase biogenesis and GYS1 (Glycogen Storage Disease 0).


Recent Publications


Vieira, P., J. Cameron, E. Rahikkala, R. Keski-Filppula, L.H. Zhang, S. Santra, A. Matthews, P. Myllynen, M. Nuutinen, J.S. Moilanen, R.J. Rodenburg, A. Rolfs, J. Uusimaa, and C.D.M. Van Karnebeek, Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. Mol Genet Metab, 2017. 120(4): p. 337-341.

Siriwardena, K., N. Mackay, V. Levandovskiy, S. Blaser, J. Raiman, P.F. Kantor, C. Ackerley, B.H. Robinson, A. Schulze, and J.M. Cameron, Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab, 2013. 108(1): p. 40-50.

Cameron, J.M., V. Levandovskiy, N. Mackay, C. Ackerley, D. Chitayat, J. Raiman, W.H. Halliday, A. Schulze, and B.H. Robinson, Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion, 2011. 11(1): p. 191-9.

Cameron, J.M., A. Janer, V. Levandovskiy, N. Mackay, T.A. Rouault, W.H. Tong, I. Ogilvie, E.A. Shoubridge, and B.H. Robinson, Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes. Am J Hum Genet, 2011. 89(4): p. 486-95.

Cameron, J.M., M. Maj, V. Levandovskiy, C.P. Barnett, S. Blaser, N. Mackay, J. Raiman, A. Feigenbaum, A. Schulze, and B.H. Robinson, Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet, 2009. 125(3): p. 319-26.

Cameron, J.M., V. Levandovskiy, N. MacKay, R. Utgikar, C. Ackerley, D. Chiasson, W. Halliday, J. Raiman, and B.H. Robinson, Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. Mol Genet Metab, 2009. 98(4): p. 378-82.

Cameron, J.M., M.C. Maj, V. Levandovskiy, N. MacKay, G.D. Shelton, and B.H. Robinson, Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab, 2007. 90(1): p. 15-23.

Maj, M.C., J.M. Cameron, and B.H. Robinson, Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? Mol Cell Endocrinol, 2006. 249(1-2): p. 1-9.

Maj, M.C., N. MacKay, V. Levandovskiy, J. Addis, E.R. Baumgartner, M.R. Baumgartner, B.H. Robinson, and J.M. Cameron, Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab, 2005. 90(7): p. 4101-7.

Cameron, J.M., V. Levandovskiy, N. Mackay, I. Tein, and B.H. Robinson, Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. Am J Med Genet, 2004. 131A(1): p. 59-66.

Cameron, J.M., V. Levandovskiy, N. Mackay, and B.H. Robinson, Respiratory chain analysis of skin fibroblasts in mitochondrial disease. Mitochondrion, 2004. 4(5-6): p. 387-94.