Funding from Epilepsy Canada brings a cure for Lafora Disease within reach

Epilepsy Canada has directed its latest funding award toward important research in finding a cure for Lafora disease. Dr. Julie Turnbull, PhD will be completing the work at Toronto’s Sick Kids hospital. The research is part of investigations that have been carried on by a team headed by Dr. B. Minassian since 2011.

In her application for funding, Dr. Turnbull said, “If successful, (this) will be one of the first cures for epilepsy and obviously very important for children and families dealing with this, arguably severest form of (the disorder).” Results from the testing now underway could be known as early as the end of 2013. Dr. Turnbull said that it was important for the Sick Kids team to get the funding at this time. She believes that if this phase of research is successful, a cure for Lafora disease could be within reach for the first time.



Dr, Julie Turnbull

Lafora Disease (LD) a progressive myoclonus epilepsy, is the most severe of the teenage-onset epilepsies. First described in 1911, onset is typically in early adolescence, striking children who were otherwise healthy. Symptoms begin with an initial seizure. Over time seizures become constant and pharmacologically intractable. The disease progresses until patients are bedridden with persistent seizures and severe cognitive impairments. It is generally fatal within 10 years of onset. Though exact numbers are unknown, Lafora Disease could affect up to 175 people in Canada.

Gary Collins, Executive Director of Epilepsy Canada stated, “We are grateful beyond words to the donors that make epilepsy research at Canadian hospitals a reality. We are hopeful that Dr. Turnbull and the team at Sick Kids are indeed close to a historic breakthrough in their efforts to conquer Lafora Disease.”

Mutations in two genes are known to cause the build-up of Lafora Bodies in neurons causing LD. EPM2A encodes laforin, a glycogen phosphatase and EPM2B encodes malin, an E3 ubiquitin ligase. In the past two years the researchers at Sick Kids have proven that removal of Lafora Bodies, abnormally structured glycogen, cures the disease in mice with laforin-deficient Lafora disease.  Dr. Turnbull points out, it remains to be shown whether or not the same applies to malin-deficient Lafora disease. This is the goal of the newly funded research. 

Dr. Turnbull first began working on the problem of a cure for LD in 2002.  The desired result from this phase of research would bring eleven years of work to a successful conclusion and a cure to Lafora patients.