Precision Diagnosis; an Etiology for Everyone

Precision diagnosis – right now there are a large number of people with epilepsy with an unknown cause. This means that our understanding of the phenotypes that we currently associate with a specific etiology (such as genetic) may be skewed to only the most severe phenotypes, which are often also the most rare, and therefore understudied. A grand challenge is to develop ways to rapidly diagnose an epilepsy etiology—whether that is genetic, infectious, autoimmune, injury, etc. – for every person so that the full spectrum of phenotypes associated with those etiologies can be determined. This foundational project has the potential to impact basic science, clinical development, and clinical care in the epilepsies. Precision diagnosis leading to an etiology for everyone is a necessary foundation for developing precision treatments that can apply to the broadest possible numbers of people.