By Deron Hamel
Dr. Berge Minassian says he believes scientists are “getting quite close” to finding a cure for Lafora disease, characterized as the most serious form of epilepsy, with inroads made possible by the Ontario Brain Institute’s (OBI’s) EpLink research program.
Minassian is one of more than 25 researchers at nine university and hospital sites across Ontario involved with EpLink.
Minassian has been studying Lafora disease for many years, and through his research he has found two mutated genes that cause the condition. These genes produce an abnormal form of starch-like glycogen which brain neurons cannot process.
Lafora disease is a rare seizure disorder, occurring in fewer than one in 200,000 people. It typically strikes young people in their early teens when they begin having uncontrolled seizures and dementia. This progressive form of epilepsy usually leads to death in about five to 10 years.
The build-up of glycogen overtakes neurons, causing severe seizures and dementia.
Funding for the EpLink project has had a major impact on his research team’s progress in finding a cure for Lafora disease, Minassian tells Voices of Epilepsy.
“It means quite a lot because this is quite a rare disease,” he says. “It’s usually hard to get funding for research for rare diseases, and EpLink has allowed us to get important funds to move us forward to (allow us) to keep doing our work.”
Much of Minassian’s research in the past year and a half has focused on lab work with mice. His team has been able to cure Lafora disease in mice through genetic changes, so they now know this is the way to cure it in humans. However, curing Lafora disease in humans would require different genetic manipulations.
Minassian says the next step in the path to finding a cure is to develop medications that can create the needed genetic changes.
“We are actively looking for medications that will do the same thing that the genetic manipulations did in the mice as a treatment for our patients, and we’re doing this in part with the EpLink funding,” says Minassian, who also credits leadership from EpLink co-directors Dr. McIntyre Burnham and Dr. Jorge Burneo as an important component to his team’s success.
On March 5, the province committed to injecting $100 million over five years to OBI, which, in turn, means five more years of EpLink funding.
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