“Lafora disease: from residency to therapy”
(Abstract: Dr. Minassian stated there is no abstract for the talk)
Presenter: Berge A. Minassian, M.D.
Professor, Departments of Pediatrics and Neurology, UT Southwestern Medical Center
Chief of Child Neurology, UT Southwestern
Neuroscience Center at Children’s Health, Dallas
1) Child neurology is in large part a vast collection of monogenic diseases
2) The progressive myoclonus epilepsies are mostly soluble lysosomal enzyme defects
3) Gene therapy is particularly effective in soluble lysosomal enzyme diseases
4) The Lafora form of progressive myoclonus epilepsy is eminently, and imminently, treatable with gene-based methods to downregulate brain glycogen synthesis
Berge A. Minassian, M.D., is a pediatric neurologist whose clinical specialties are epilepsy, neurodegenerative diseases, and neurogenetic conditions. He has been active in neurogenetics research for his entire career. Two of his primary interests have been Lafora disease, for which his lab discovered the genes, and adult polyglucosan body disease. He has published more than 120 scholarly articles and authored or contributed to 10 books.
Dr. Minassian is a Fellow (Neurology) of the Royal College of Physicians and Surgeons of Canada and a founding member of the American Academy of Neurology’s Neurogenetics Section. Prior to joining the UT Southwestern faculty in 2016, he was a Professor of Neurology at the University of Toronto, a pediatric neurologist at Toronto’s Hospital for Sick Children, and a senior scientist in Genetics and Genome Biology at the Hospital for Sick Children Research Institute. Dr. Minassian earned his medical degree at McGill University Faculty of Medicine and performed a residency in adult neurology at the Veterans Administration West Los Angeles Medical Center. He then completed a clinical fellowship in pediatric neurology and epileptology, as well as postdoctoral research fellowships in both mo