Some of the greatest progress right now in precision therapies for genetic epilepsies is the result of parents of children with genetic epilepsies forming nonprofit organizations. These non-profits then raise funds for medical research. These organizations understand the urgency of the situation and they drive progress by being laser-focused on a specific genetic epilepsy. These genetic epilepsies are arguably among the most likely candidates for currently available precision treatments (ASOs, gene therapies, etc). However, these organizations are also always short on funds and often have to reinvent the wheel in terms of infrastructure. Many of the genetic epilepsies will remain largely unexplored because there is no affected family with the bandwidth to advocate for them. We are all trying to create the same research toolkits of animal and cellular models. We are all trying to organize our patient populations with registries, natural history studies and biobanks. There needs to be a system in place to streamline these processes without putting the financial burden on the affected families to raise funds for these models and repositories.
Why would this research priority transform epilepsy research, our understanding of the epilepsies, and/or treatment of the epilepsies? :
Idea No. 286