NEW YORK (GenomeWeb) – The LGS Foundation said today that it has partnered with the Epilepsy Genetics Initiative (EGI) in a pilot program to sequence the exomes of individuals affected by a rare and severe type of epilepsy called Lennox-Gastaut Syndrome.
EGI is an effort by Citizens United for Research in Epilepsy (CURE) to advance precision medicine in epilepsy by creating a centralized database of whole exome sequences from epileptic individuals to support research into disease causes and possible treatments.
The new pilot will initially allow 100 individuals with Lennox-Gastaut and their family members to receive free genetic testing through an EGI enrollment site. Findings will be reported back to particpants' doctors.
"Approximately 30 percent of individuals who are diagnosed with LGS don't know what their cause is," Melanie Huntley, President of the LGS Foundation, said in a statement. "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," she added.