Epilepsy is a general term for a variety of conditions that misfire in the brain’s neuroreceptors. Before the condition was studied scientifically, people often thought that seizures were anything from demonic possession or a curse from God to a psychological disorder.
Just 20 years ago there were very few medications that could control seizures–especially in babies suffering with Lennox-Gastaut syndrome (LGS). Today, thankfully, that’s changed.
But for people with Lennox-Gaustaut syndrome, a rare and severe form of childhood-onset epilepsy, treatment is still out of reach.
That’s why the announcement by the Lennox-Gastaut Syndrome (LGS) Foundation is so exciting. They recently partnered with the Epilepsy Genetics Initiative with the hopes of exploring tailor-made treatments for people living with LGS. Less than 50,000 people in the US are affected by LGS, which makes understanding its complexities even more challenging.
The Epilepsy Genetics Initiative (EGI) was formed by Citizens United for Research in Epilepsy (CURE) to collect genetic information from people with epilepsy in order to help define ways to create more effective treatments. They hope to one day provide designer therapies that are custom made to provide optimal seizure control for the individual.
The new partnership aims to provide people living with LGS access to genetic testing. To start, the pilot program will enable 100 individuals with LGS and their family members to receive free genetic testing through an EGI enrollment site. The testing involves a blood test that your doctor will order.
“Approximately 30% of individuals who are diagnosed with LGS don’t know what their cause is,” says Melanie Huntley, Ph.D., President of the LGS Foundation. “Whole exome sequencing helps researchers to identify genetic problems that can provide clues to why they started to have seizures and developmental delay. Once we know this information, we are hopeful that new treatment options can be developed to target problematic genes, which can hopefully lead to a better prognosis.”
“EGI is an exciting initiative that may help patients and their families, as well as researchers, understand the cause of seizures,” said Laura Lubbers, Ph.D., Chief Scientific Officer for CURE. “Ultimately, this information may lead to better treatments and one day a cure for those struggling with epilepsy. CURE is delighted to have the opportunity to work closely with the LGS community to help better understand this devastating disorder.”