EpLink researcher says team is ‘quite close’ to finding Lafora disease cure

November 7, 2013

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.

Dr. Berge Minassian
Dr. Berge Minassian

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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2 responses on “EpLink researcher says team is ‘quite close’ to finding Lafora disease cure

  1. valorie mccoy

    my son has lafora , please hurry with a cure. he will try new med. please help franklin scott mccoy. i am his mom valoriemccoy God bless

  2. Carlos Caycho

    am a desperate father with 2 teenager with lafora myoclonic epilepsy progressive
    My son Anthony is an autistic boy 16 years old he has 4 years with seizures and My daughter Yasmin 15 years old she has 4 years continues seizures.
    medicines doesn’t work my kids try all medicines.
    I read a lot about lafora and I know is progreesive my 2 kids need wheelchair and we have to feed.
    I remember an cry a lot because my 2 kids were available to run, play and do everything
    I am explaining my situation if you can help me or give me an advice
    only I prade god my kids one day be ok
    is very hard to see my kids how deterioring their life every day.
    this is my cell 305 907 4381 I live in Miami florida this is my email
    [email protected] [email protected]
    Anything I can do from my part I will for my 2 kids
    nobody knows how sad is my kids life and I cry every day
    sometimes I wish die with then for get a better life next to God
    is hard to describe.
    Thanks for read my email

    God bless you

    Anthony and Yasmin

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