Lafora Disease Research Update – Dr. Berge Minassian

Hope for People with Lafora Disease

Lafora disease is a rare type of epilepsy that appears to be caused by changes in a single gene or a small number of related genes (what scientists refer to as ‘genetic mutations’). It is one of the most severe epileptic syndromes, leading to a decline in intellectual functioning, seizures and eventually death. Typically, Lafora Disease has its onset in the teenager years and symptoms appear unexpectedly.

Dr. Berge Minassian at the Hospital for Sick Children has found the genetic mutations that cause LaFora disease and is now searching for a cure. He has found that the genetic mutations lead to the production of a starch-like compound (known as a polysaccharide) that is not normally found in the brain and may lead to the formation of ‘Lafora bodies’. The Lafora bodies slowly build up in neurons and eventually cause the death of these brain cells.

Dr. Minassian is working on new drugs to prevent the formation of Lafora bodies or to encourage their breakdown. He is currently working in animals, but hopes to proceed to patients in the near future. He is in discussion with industrial partners who may help to take his work from bench to bedside.