Berge Minassian , MD CM, FRCP(C)
The Hospital for Sick Children
Genetics & Genome Biology
University of Toronto
Department of Paediatrics
University of Toronto Michael Bahen Chair
Phone: 416-813-7721 x309114
Fax: 416-813-6334 x206334
Dr. Minassian graduated from McGill medical school and obtained his training in Neurology from UCLA. He returned to Canada and trained in paediatric epilepsy with Dr. Carter Snead, and genetics with Drs. Lap-Chee Tsui and Stephen Scherer. During his training, he wrote a seminal paper on epilepsy surgery and time discovered the two causative genes for Lafora disease, the severest and a fatal form of adolescence-onset epilepsy. Dr. Minassian has the rank of Professor and directs a lab with nine trainees and technicians at SickKids. His lab has helped discover seven disease genes, including four for epilepsy. His most active research area is the unraveling of the pathogenesis of Lafora disease. His lab has disclosed a novel pathway of regulation of glycogen synthesis involving the Lafora disease genes. Dr. Minassian’s group has made seminal contributions to Rett and Angelman syndromes, the most common forms of mental retardation with epilepsy. His lab also discovered the first two canine epilepsy genes. Dr. Minassian holds the University of Toronto Michael Bahen Chair in Epilepsy Research and co-directs a nationwide epilepsy project funded by Genome Canada involving whole genome sequencing of 2000 epileptic patients to identify the genetic bases of epilepsy and intractable epilepsy.
Fellowship in Child Neurology and Paediatric Epilepsy
University of Toronto, The Hospital for Sick Children
Research Fellow in molecular biology in the laboratories of Dr. Steve Scherer and Dr. Lap-Chee Tsui
University of Toronto, The Hospital for Sick Children
Lafora disease, X-linked myopathy with excessive autophagy, Rett Syndrome
- Ontario Research and Innovation Optical Network (ORION) Leadership Award in E-Infrastructure in recognition of outstanding leadership in research and innovation in Ontario. 2013
- University of Toronto, Michael Bahen Chair in Epilepsy Research, July 2012
- Benjamin Boshes Memorial Lectureship, Keynote Speaker, Israeli Neurological Association Annual Meeting, 2011
- Physician Researcher Award for Scientific Accomplishment, from the University of Toronto, Dept. of Pediatrics. 2009
- Canadian Paediatric Society Sanofi Pasteur Research Award, for Excellence in Canadian child health research 2008
- Dreifuss-Penry Epilepsy Award - American Academy of Neurology, for Independent contribution to epilepsy research 2007
- Canada Research Chair in Pediatric Neurogenetics. 2006
Turnbull J, Epp JR, Goldsmith D, Zhao XC, Pence N, Wang P, Frankland PW, Ackerley CA, Minassian BA. PTG depletion rescues malin-deficient Lafora disease in mouse. Annals of Neurology 2014 Jan. In Press
Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler AL, Yu WQ, Ivovic A, Naranian T, Israelian N, Draginov A, Piliguian M, Frankland PW, Wang P, Ackerley CA, Giacca A, Minassian BA. Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance. Journal of Biological Chemistry. 2013 288:34627-34637
Cenci U, Nitschke F, Steup M, Minassian BA, Colleoni C, Ball SG. Transition from glycogen to starch metabolism in Archaeplastida. Trends in Plant Science. 2014 Jan;19(1):18-28.
Pederson B, Turnbull J, Epp J, Weaver S, Zhao X, Pencea N, Roach PJ, Frankland P, Ackerley C, Minassian BA. Inhibiting glycogen synthesis prevents Lafora Disease in a mouse model. Annals of Neurology 2013. Epub ahead of print. Doi 10.1002/ana.23899
Nitschke F, Wang P, Schmieder P, Girard JM, Awrey DE, Wang T, Israelian J, Zhao X, Turnbull J, Heydenreich M, Kleinpeter E, Steup M, Minassian BA. Hyperphosphorylation of glucosyl c6 carbons and altered structure of glycogen in the neurodegenerative epilepsy of Lafora Disease. Cell Metabolism 2013 May 7;17(5):756-67.
WangY, Ma K, Wang P, Baba O, Zhang H, Parent JM, Zheng P, Liu Y, Minassian BA, Liu Y. Laforin prevents stress-induced polyglucosan body formation and Lafora Disease progression in neurons. Molecular Neurobiology 2013 Aug;48(1):49-61.
Rilstone JJ, Alkhater R, Minassian BA. Brain dopamine-serotonin vesicular transport disease and its treatment. New England Journal of Medicine 2013 Feb; 368(6):543-50
Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Isrealian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellisier J, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol. 2013 Mar;125(3):439-57
Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA. Increased laforin and laforin binding to glycogen underlie Lafora Body Formation in Malin-deficient Lafora Disease. Journal of Biological Chemistry 2012 Jul 20; 287(30):25650-9.
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Liu Y, Pencea N, Zhao XC, Scherer SW, Ackerley CA, Minassian BA. Early onset Lafora body disease. Brain 2012: 135(Pt 9); 2684-2698.
Rilstone J, Coelho FM, Minassian BA, Andrade DA. Dravet Syndrome: Seizure control and gait in adults with different SCN1A mutations. Epilepsia, 2012 Aug;53(8):1421-1428.
Andrade DA, Paton T, Turnbull J, Klein C, Marshall CR, Scherer SW, Minassian BA. Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy. Pediatric Neurology, 2012 Sep;47(3):205-8.
Girard JM, Stone SDS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang PX, Zhao X, Ackerley CA, Frankland PW, and Minassian BA. Phosphorylation Prevents Polyglucosan Transport: Implications for Lafora Disease. Neurology, 2012 Jul 3;79(1):100-2.
Tang C, Koulajian K, Schuiki I, Zhang L, Desai T, Ivovic A, Wang PX, Robson-Doucette C, Minassian BA, Volchuk A, Giacca A. Glucose-induced beta cell dysfunction in vivo: link between oxidative stress and endoplasmic reticulum stress. Diabetologia, 2012 May;55(5): 1366-79
Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, White SJ, Kroisel PM, Chow EM, Saunders CJ, Minassian BA, Vincent JB. Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. Am J. Med Genet B Neuropsychiatr Genet. 2012 Mar; 159B(2):210-6.
Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. Clin Genet. 2011 Nov 17. Doi: 10.1111 PMID 22091964.
Ackerley C, Cameron J, Minassian BA, Hawkins C, Robinson B. Preliminary investigations into the utilization of electron tomography and immunogold immunocytochemistry in the diagnosis of mitochondrial disease in muscle. Microscopy and Microanalysis 17 (S2), 190-191.
Seppälä E, Jokinen T, Fukata M, Fukata Y, Webster M, Karlsson E, Kilpinen S, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone J, Lindblad-Toh K, Minassian BA, Lohi H. LGI2 Truncation causes a remitting focal epilepsy in dogs. PLoS Genetics, 2011 July 7(7): e1002194.
Turnbull J, DePaoli-Roach A, Cortez M, Zhao XC, Pencea N, Wang PX, Tiberia E, Roach PJ, Ackerley CA, Minassian BA. PTG depletion removes Lafora bodies and rescues fatal epilepsy of Lafora Disease. PLoS Genetics 2011 Apr; 7(4):e1002037.
Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov A, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA: Glycogen hyperphosphorylation underlies Lafora body formation. Annals of Neurology 2010 Dec: 68(6):925-33.