The National Institute of Neurological Disorders and Stroke (NINDS) has sponsored a Curing the Epilepsies conference every seven years in 2000, 2007, and 2013. A major outcome of these conferences has been the Epilepsy Research Benchmarks, which reflect priorities for research across the epilepsy community. The conference planned for April 2020 was impossible to hold in person due to the coronavirus pandemic. Therefore, the American Epilepsy Society Epilepsy Research Benchmarks Committee revised the benchmarks with community input via a crowdsourcing discussion platform.
The completion of benchmark updates provided an opportunity for the Cuing the Epilepsies conference, held virtually on January 4-6, 2021, to discuss Transformational Research Priorities for the Epilepsies. The conference briefly summarized historical efforts that led to creating benchmarks for collective action to cure the epilepsies before shifting focus to future efforts. The goal was to accelerate new treatment developments, increase data sharing and collaboration, and highlight gaps and opportunities in epilepsy research to inform the research community over the next 5-7 years.
There was much discussion on collaborative efforts to identify biomarkers and/or mechanisms of seizures that are common to all seizure types (i.e., markers that are present in all epilepsy types). Additionally, there was a strong desire to develop a platform where researchers can freely share all types of data including resources on animal models of epilepsy and negative results found in the lab that are not typically published. The hope is that this type of resource will encourage studies that focus on repeating experiments across laboratories and sites, in an effort to strengthen results and show that they are reproducible. Additionally, the discussion emphasized the need for standardized and validated methods to measure impact of treatments on effects, such as behavior and quality of life, beyond decreasing seizure frequency that are important to people with epilepsy.
A major focus of the conference was the need for multi-dimensional “big data” platforms and analysis to accelerate discovery by making sense of huge amounts of data collected for clinical care, clinical trials, and natural history studies. Emphasis was placed on the collection of these data broadly without a specific question in mind when conducting the studies to accelerate our collective knowledge in the epilepsy space. For example, taking a deeper dive into genetic diagnosis strategies as current methodologies don’t assess regions of the DNA where most genetic variation occurs. More specifically, permitting studies that analyze the entire DNA sequence rather than only testing for known epilepsy variants will provide a more wholistic view of the genetic determinants of the variation we see across the epilepsies. Additionally, the need to establish common data elements was emphasized so that every study conducted has a minimum set of data collected in the same way to permit simplified analysis across many data sets.
TSC was highlighted as an example across multiple sessions including talks related to biomarkers, epileptogenesis, and epilepsy prevention. This would not be possible without the continuing involvement and contributions of people affected by epilepsy and TSC. We look forward to further partnership with other advocacy groups and continually improving our research initiatives to collaborate and cure the epilepsies.