Incorporate ethics approaches and use human values to guide innovation in research and technology for drug resistant epilepsy (DRE).
This should be a clear mandate for future and collaborative investigation in epilepsy, as it provides an opportunity to bring in scientists from disciplines outside of the epilepsy field.
This focus should be on epilepsy alone, as the co-morbidities add a level of complexity that may make progress slow.
With genetic and epigenetic mechanisms represented strongly in other... more »
There are a myriad of known gene variants found within intronic or untranslated gene regions or at splice-sites that will require functional validation in vitro by expression of the variant in... more »
It is indeed a high priority to make models in cells and multiple organisms (fly, fish, mouse) that actually replicate the human mechanisms, e.g., gene knockout may not be the same as gene inactivation from a missense variant. All models have REAL human relevance, it is just HOW relevant. Another way to say it might be: Develop cell... more »
The current benchmarks never say the words "cure epilepsy". It is vaguely suggested by Area II, component E, but why be vague? We want to CURE EPILEPSY. Lets say that loud and clear, right?
The lowest hanging fruit for epilepsy models is to use CRISPR-knock-in (KI) strategies to create mice expressing human gene variants rather than simply presuming gene knockout or over-expression will accurately model a loss- or gain-of-function mutation.... more »