Project Summary
In its most basic form, this proposal will explore the effects of human disease through the use of
a fly model to generate fly avatars of severe epileptic disease. The form of epilepsy that will be
modeled here is Developmental and Epileptic Encephalopathy (DEE)—a pediatric epileptic
condition that causes severe early onset epilepsy. By making mutations, the goal is to generate
a fly model and use it to generate insights into epileptic mechanisms. Then, with the
construction of CRISPR generated platform for recombinase generated mosaics, mosaics can
be generated for the DEE mutants that explore tissue sensitivities. The long-term goal is to
improve the understanding of these epilepsies and what increases or decreases their
occurrences. Using the recombinase-based mosaicism, there exists a real possibility to delve
into the cell biology of the molecules that predispose an organism to epileptic seizures. The
ultimate goal is to understand these specific epilepsies, what promotes them and how can
tailored therapies be generated from a better understanding of their mechanisms. The hope is
that ultimately these discoveries lead to a targeted drug therapy.