Massively Parallel Reporter Assays to Reveal Noncoding Variant Contribution in Epilepsy

The genetic causes of common epilepsies are understudied despite their impact on the community. We know that many genetic variants are linked with epilepsy risk, but which one(s) are the biggest culprits is not known. Part of the challenge is that we do not have the tools to study many variants simultaneously. This research will develop a new method to rapidly determine which (if any) genetic variants near SCN1A, an important epilepsy gene, alter SCN1A gene expression. If successful, this method can be used to test variants in other epilepsy-associated genes. Increased knowledge of whether a specific genetic variant might increase or decrease the expression of an epilepsy-related gene could have an impact on diagnosis and clinical care.

This CURE Epilepsy Taking Flight Award is funded by the Joseph Gomoll Foundation.