Berge Minassian


Affiliation : University of Toronto
Organization : Hospital for Sick Children de Toronto
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About Berge Minassian

Dr. Minassian graduated from McGill medical school in 1992 and obtained his training in Neurology from UCLA in 1996. While at UCLA, he saw patients with Lafora disease, a fatal and the severest form of epilepsy. In 1996, he returned to Canada and trained in paediatric epilepsy with Dr. Carter Snead, and genetics with Drs. Lap-Chee Tsui and Stephen Scherer. During this training, he wrote a seminal paper on epilepsy surgery with Dr. Snead and at the same time discovered the first gene for Lafora disease. He discovered the second gene for this disease in 2003.


Dr. Minassian joined the faculty at The Hospital for Sick Children of Toronto and the University of Toronto in 1998 as a neurologist-scientist. He currently has the rank of Associate Professor. Between 1998 and now, his lab has discovered seven disease genes, including three for epilepsy. His most active research area is in the unraveling of the pathogenesis of Lafora disease. In this work, his lab has disclosed a heretofore unknown pathway of regulation of glycogen synthesis involving the Lafora disease genes. Disturbance of this pathway results in the conversion of normal glycogen to starch in human brain which underlies the intractable and fatal epilepsy in this syndrome.

 

Dr. Minassian’s group has made seminal contributions to Rett syndrome, the most common form of mental retardation in girls, and in Angelman syndrome, a second very common form of mental retardation with epilepsy. He also discovered the first two canine epilepsy genes. Recently, his lab discovered the defective gene linked to a hereditary form of an autophagic myopathy. Most recently, his group characterized a form of infantile Parkinson's disease, discovered the disease gene, and from that knowledge identified a cure for these patients.



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