Massively parallel reporter assays to reveal noncoding variant contribution in epilepsy

This study has the potential to catalyze a paradigm shift by linking population genetic findings from large GWAS studies to a molecular mechanism influencing epilepsy susceptibility. This could lead to novel treatment strategies or genetic risk assessment in the common epilepsies. This may also inspire more geneticists to shift their focus from coding variants to exploring non-coding DNA, which may have significant long-term benefit for improving the genetic diagnosis of both common and rare epilepsies. On a personal level, this award and project will enable me to carve out a niche in the epilepsy space as an independent investigator and help me establish a long-term career by demonstrating my ability to compete for scientific funding and publish the results.