Berge Minassian , MD
The Hospital for Sick Children
Genetics & Genome Biology
University of Toronto
Canada Research Chair
Dr. Minassian graduated from McGill Medical School in Montreal, trained in adult neurology at the University of California, Los Angeles and in paediatric epileptology at The Hospital for Sick Children, Toronto. Dr. Minassian spends 80 per cent of his time in the laboratory to help further knowledge in his areas of specialty and design better treatments.
Dr. Minassian’s Lab works on a teenage-onset fatal inherited epilepsy syndrome (Lafora disease). Dr. Minassian and collaborators at SickKids have identified two genes for this disorder, EPM2A, encoding the laforin dual-specificity phosphatase, and EPM2B, encoding the malin E3 ubiquitin ligase. They are currently near identifying a third gene for this disorder. Dr. Minassian’s ultimate aim is to unravel the neuronal biochemcial pathway disrupted in Lafora disease, in order to gain insights towards treating the disorder. Dr. Minassian is also interested in Rett syndrome. His team has recently discovered a new isoform of the MECP2 protein, which is expressed at ten times the abundance of the traditional MECP2 isoform, and which is the disease-relevant form of the protein. Finally, Dr. Minassian’s group is working on a rare and pathologically unique form of muscular dystrophy (X-linked myopathy with excessive autophagy), the gene of which they are narrowing in on.
In collaboration with his previous post-doctoral fellow, Dr. Hannes Lohi, Dr. Minassian is using the great power of canine genetics to map disease genes. Their group identified the first canine epilepsy gene recently, and is now in a major endeavour to map many other genes. This effort will help breeders eliminate disease from their breed, but will also expedite the identification of corresponding disease genes in humans.
Clinical Care Activities
Epilepsy, Canine genetic diseases, Angelman Syndrome, Lafora disease, neuronal ceroid lipfuscinosis
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
- 2009 - Physician Researcher Award for Scientific Accomplishment, from the University of Toronto, Dept. of Pediatrics
- 2008 - Canadian Paediatric Society sanofi pasteur Research Award, for Exellence in Canadian child health research
- 2007 - Dreifuss-Penry Epilepsy Award, American Academy of Neurology
- 2006 - International Child Neurology Association - John Stobo Prichard Award
- 2006 - Canada Research Chair in Paediatric Neurogenetics
- 1996 - Angelman Syndrome Foundation Research Grant
- 1996 - Young Investigator Award, American Epilepsy Society
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.
Striano P, Ackerley CA, Mariarosaria C, Girard JM, Turnbull J, Del Basso-De Caro M, Striano S, Zara F, Minassian BA: 22 year old girl with status epilepticus and progressive neurological symptoms. "Case of the Month" for April 2009. Brain Pathology 2009: 19(4): pp 727-30
Klaus V, Vermeulen T, Minassian BA, Israelian N, Engel K, Lund A, Roebrock K, Haberle J: Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? Clinical Genetics 2009: 76: pp 263-9
Webb AA, McMillan C, Cullen CL, Boston SE, Turnbull J, Minassian BA: Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog. Canadian Veterinary Journal 2009: 50(9): pp 963-7
Clapcote S, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Schack VR, Peterson J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC: Mutation I810N in the alpha3 isoform of Na+K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS. Proceedings of the National Academy of Science USA 2009: 106(33): pp 14085-90
Andrade DM, Hamani C, Minassian BA: Treatment options for epileptic myoclonus and epilepsy syndromes assciated with myoclonus. Expert Opin Pharmacother 2009: 10(10): pp 1549-60
Saunders C, Minassian BA, Chow E, Zhao W, Vincent J: Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett Syndrome. American Journal of Medical Genetics 2009: 149A(5): pp 1019-23
Ramachandran N, Girard JM, Turnbull J, Minassian BA: The autosomal recessively inherited progressive myoclonus epilepsies and their genes. Epilepsia 2009: 50(Supp 5): pp 29-36
Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain 2009: 132(pt 3): pp 810-19
Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, Depaoli-Roach AA, Roach PJ: Abnormal metabolism of glycogen phosphate as a cause for lafora disease. Journal of Biological Chemistry 2008: 283(49): pp 33816-25
Wang W, Lohi H, Skurat AV, Depaoli-Roach AA, Minassian BA, Roach PJ: Glycogen metabolism in tissues from a mouse model of Lafora disease. Archives of Biochemistry and Biophysics 2007: 457(2): pp 264-9.
Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E: Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients. Journal of Medical Genetics 2006: 43(12): pp e56.
Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Minassian BA, Vincent JB: Sequence variants within exon 1 of MECP2 occur in females with mental retardation. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006: epub: pp 17171659.
Andrade DM, Scherer SW, Minassian BA: Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple? Epilepsy Research 2006: 72(1): pp 75-9.
Ackerley CA, Minassian BA: Animal Models of Lafora Disease. Microscopy and Microanalysis 2006: 12(2): pp 12-3.
Sell E, Minassian BA: Demystifying vaccination-associated encephalopathy. The Lancet 2006: 5(6): pp 465-6.
Franceschetti S, Gambardella A, Canfoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gallera C, Amnesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzani G, Minassian B, Zara F: Clinical and genetic findings in 26 Italian patients with Lafora disease. Epilepsia 2006: 47(3): pp 640-3.
Lohi H, Chan EM, Scherer SW, Minassian BA: On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. Advances in Neurology 2006: 97: pp 399-415.
Lohi H, Minassian BA: Starch-like polyglucosan formation in neuronal dendrites in the Lafora form of human epilepsy: a theory of pathogenesis. Biologia Bratislava 2005: 60 Sup16: pp 123-9.
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA: Sacred Disease Secrets Revealed: The Genetics of Human Epilepsy. Human Molecular Genetics 2005: 14 Spec 2: pp 2491-2500.
Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA: Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Human Molecular Genetics 2004 Apr 21 [Epub ahead of print] PMID: 15102711 SRI. Human Molecular Genetics 2004. SRI
Mnatzakanian GN, Lohi H, Munteanu I, Alfred S, Yamada T, MacLeod PJM, Jones RJ, Scherer SW, Schanen CN, Friez MJ, Vincent JB, Minassian BA: A previously unidentified MECP2 open reading frame defines a new Rett syndrome relevant isoform. [Epub Ahead of print] PMID: 15034579. Nature Genetics 2004: 36: pp 339-341. SRI
Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA: Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Human Mutations 2004: 23: pp 170-176. SRI
Andrade DM, Minett TSC, Teive HAG, Bohlega S, Scherer SW, Minassian BA: Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology 2003: 61: pp 1611-1614. SRI
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW: Mutations in the EPM2B gene cause Progressive Myoclonus Epilepsy: Epub Sep. 7, 2003. Nature Genetics 2003: 35(2): pp 125-7. SRI
Ianzano L, Zhao XC, Minassian BA, Scherer SW: Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. Genomics 2003: 81(6): pp 579-87. SRI
Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA: Genetic mapping of a new Lafora Progressive Myoclonus Epilepsy locus (EPM2B) on 6p22. Journal of Medical Genetics 2003: 40: pp 671-675. SRI
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Lai Z, Nusskern D, Zhang Q, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Human chromosome 7: DNA sequence and biology. Epub 2003 Apr 10. Science 2003: 300(5620): pp 767-72.
Minassian BA, Aiyar R, Alic S, Banwell B, Villanova M, Fardeau M, Mandell JW, Juel VC, Rafii M, Auranen M, Kalimo H: Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 2002: 59(4): pp 596-601. SRI
Minassian BA, Otsubo H, Weiss S, Elliott I, Rutka JT, Snead OC 3rd: Magnetoencephalo-graphic localization in pediatric epilepsy surgery: comparison with invasive intracranial electro-encephalography. Annals of Neurology 1999: 46(4): pp 627-33.
Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nature Genetics 1998: 20(2): pp 171-4.