Dr. Berge Minassian, Hospital for Sick Children, Toronto, Canada (on left) &
Dr. Antonio Delgado-Escueta, UCLA Medical Center, Los Angeles, California
Berge Minassian, MD
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.
Antonio Delgado-Escueta, MD
Dr. Antonio Delgado-Escueta is a world-renowned physician-scientist and authority on Lafora progressive myoclonus epilepsy and other types of epilepsy. His laboratories first mapped the chromosome 6q24 locus for Lafora progressive myoclonus epilepsy with Jose Maria Serratosa in 1995. Together with previous and present postdoctoral students, notably Jose Maria Serratosa and Berge Minassian, and collaborators S. Ganesh and Kazuhiro Yamakawa from RIKEN Brain Science Institute, they have been mainly responsible for refined mapping and isolation of Lafora Disease genes. Together with S. Ganesh and K. Yamakawa, they developed a mouse model of Lafora Disease, which is deficient in the laforin/DSP gene. This mouse model has aided in our understanding of the mechanisms of Lafora disease and developing treatment.
For over 20 years, Dr. Delgado-Escueta has been working diligently to solve the mystery that is Lafora disease epilepsy, but progress has been severely hampered due to limited resources. In 2003, Dr. Delgado-Escueta received a small grant to provide seed funding from Citizens United for Research in Epilepsy (CURE) to support gene therapy research in Lafora-deficient scientific models. This grant helped initiate the research of Dr. Eain M. Cornford and Shigeo Hyman and resulted in their NIH funding and even greater progress in developing experimental gene replacement therapy in Lafora disease mice.
Dr. Delgado-Escueta’s former students and postdoctoral scholars and collaborator have started independent research groups that continue to study Lafora disease all over the world, including Spain (J. Serratosa), Canada (B. Minassian) and India (S. Ganesh).