Finding a Cure for Lafora Disease

Lafora disease is a rare type of epilepsy that is likely genetic – caused by either a change in a single gene or a small number of related genes (what scientists call ‘genetic mutations’). Lafora disease is one of the most severe epilepsy syndromes, leading to intellectual disability, seizures and eventually death. Symptoms of Lafora disease typically start during the teenage years and are unexpected.

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. The genetic mutations cause a starch-like compound to be made in large amounts in the brain. This compound, which is not normally found in the brain, leads to the creation of ‘Lafora bodies’. The Lafora bodies slowly build-up in the brain and eventually cause brain cells to die.

Dr. Minassian is working on ways to stop the build-up of starch-like compounds in the brain – either by stopping them before they are made or breaking them down after they are made. He is currently working in animals but hopes to test new therapies on patients in the near future. He is currently in discussions with industry partners who may help take his work from bench to bedside.

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7 Replies to “Finding a Cure for Lafora Disease”

  1. Óscar Rodríguez

    We are expecting to know more about advances in this disease. We are waiting for good news from Spain (Canary Island).

    Thanks for your efforts!!

    Reply
  2. Carlos

    I hope one day there will be a cure. My 2 kids have lafora for almost 5 years, it’s very hard to describe my kids situation. Nobody knows this terrible disease.

    My 2 kids were able to run, play, both now they are in wheelchairs. It’s very sad and crying everyday for them.

    Reply
  3. Venkatesh

    Please let us know if at all any update on this, my sister daughter who was good in aspects till 16, now suffering from this disease. It’s hard for any of the parents if kids are suffering from this deadly disease. Thanks very much for what ever you are doing for this world. Thanks, Venkatesh

    Reply

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