Researchers Coordinate Efforts to Find Cure for Lafora Disease

Chelsea Gerber

Chelsea Gerber is the inspiration behind Chelsea’s Hope, an organization dedicated to supporting awareness, research, treatment, and cures for those affected by Lafora disease. Chelsea passed away on December 19, 2016, following a 12 and half year struggle with the disease. She was 26 years old. Please join us in sending condolences to Chelsea’s family and friends in the comments below. You can honor Chelsea by sharing this page on your social media to raise awareness about Lafora disease and rare epilepsies.

Monday, February 6, 2017

About the author: Kim Rice MD, a member of the Board of Directors of Chelsea’s Hope and the parent of a child with Lafora disease, provides an update on research towards a cure for this severe form of epilepsy. Chelsea’s Hope is a member of the Rare Epilepsy Network (REN).

There is now hope on the horizon for people diagnosed with Lafora disease (LD). Also known as Lafora Progressive Myoclonus Epilepsy, it is one of the rarest and most devastating types of epilepsy.

What is Lafora disease?

LD strikes previously normal adolescents, usually beginning with seizures, often associated with some loss of coordination and cognition. After the initial onset, there is a slow, steady progression of neurologic impairment and dementia until the person is completely disabled, bedridden, and racked with nearly constant seizures. Death usually occurs within 10 years of diagnosis.

Lafora Epilepsy Cure Initiative Yields Discoveries

During the past two years, researchers from the U.S., Canada, and Europe have formed the Lafora Epilepsy Cure Initiative (LECI) to coordinate their efforts to cure Lafora Disease. They have convened for two international workshops and they are now working together under a multi-institutional grant from the National Institutes of Health (NIH) led by Dr. Matthew Gentry at the University of Kentucky.

Two genes have been discovered to cause LD by disrupting normal carbohydrate metabolism in brain cells. Researchers have been able to interrupt this process in mice and predict that they will have one or more drugs ready for human trials, possibly within the next two years. This is extremely exciting news, not only for people with LD and their families, but also for the epilepsy community at large. 

Precision Medicine May Lead to Individual Solutions

With the deciphering of the human genome in recent years, there are now more than 300 genes known to cause epilepsy. The “one size fits all” trial and error approach to seizure drug therapy will soon give way to therapies tailored to the individual’s particular genetic mutation. In some cases, these will not be simply palliative; they will be curative. Researchers are confident that a cure for LD is imminent and that it will be one of the first such precision therapies for the treatment of epilepsy.

Currently, diagnosis is often delayed, many times for several years, because the initial presentation can be indistinguishable from a much more common seizure disorder known as Juvenile Myoclonic Epilepsy (JME). This delay is about to become a huge problem since early diagnosis will become absolutely critical once there is a drug that can halt progression of the disease. 

Early Diagnosis is Critical

That is why we are reaching out now through the Epilepsy Foundation, the Rare Epilepsy Network, and other organizations to heighten awareness and promote early diagnosis. In the not-too-distant future, it is plausible that every person diagnosed with epilepsy will undergo whole genome or exome testing. Until that day, our goal is to reach every person presenting with seizures during adolescence and every neurologist caring for such people, so that LD is considered and the appropriate testing and treatment is initiated without delay.

Chelsea's Hope

Chelsea’s Hope Lafora Research Fund is the major North American advocacy group for people with LD; it will play a key role in keeping people and their families informed and engaged prior to and during clinical trials.

We hope to work closely with the Epilepsy Foundation to increase awareness of this rare disease.    

More information about recent developments in LECI research can be found at and

Authored by: Kim Rice MD | Chelsea’s Hope Board of Directors | Lafora Parent on 2/2017
Rare Epilepsies Network (REN) logo
Rare Epilepsy Network

To expedite research into the rare epilepsies, more than 25 rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, and Columbia University to create the Rare Epilepsy Network, known as REN. The group is building a registry to collect information about people with rare epilepsies to support and encourage research, better understand these conditions, develop treatments, and improve the lives and quality of care of people affected. Learn more about REN.

Enroll in the REN Registry.

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The mission of the Epilepsy Foundation is to lead the fight to overcome the challenges of living with epilepsy and to accelerate therapies to stop seizures, find cures, and save lives.

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