(@bfureman1) kudos icon 2

Transformative Research Priorities for the Epilepsies

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... more »

Voting

Awaiting Votes
Ideate
(@ilenepennmiller) kudos icon 1

Transformative Research Priorities for the Epilepsies

Instituting Research Collaborations Across Rare Epilepsies

As a parent, rare epilepsy organization co-founder, and lifelong advocate, I undertook a Rare Epilepsy Landscape Analysis (RELA) (bit.ly/RELAanalysis) and (https://bit.ly/RELAappendix) in 2019. The RELA identified 75 Rare epilepsy organizations (there are over 100 today!) and developed a 111 question survey developed by and for the Rare epilepsy organizations and other key stakeholders. 44 rare epilepsy organizations... more »

Voting

Awaiting Votes
Ideate
(@ilenepennmiller) kudos icon 13

Transformative Research Priorities for the Epilepsies

Urgent Call to Structurally Transform the Epilepsy Ecosystem

As a community of 19 patient and professional groups across the epilepsy community, we applaud the work of the Benchmark Committee and NINDS for launching this open call for transformative priorities for "Curing the Epilepsies". Looking back over the 20 years invested in national conferences toward Curing the Epilepsies and 3 cycles of Benchmarks to set priorities, we are concerned that progress for persons living and... more »

Voting

Awaiting Votes
Ideate
kudos icon 5

Transformative Research Priorities for the Epilepsies

Multicenter networks to foster transformative clinical research

We advocate for a deliberate investment in collaborative, national or international efforts to rapidly and rigorously collect and share clinical data on patients with epilepsy, particularly those with rare genetic variants. Development of an infrastructure of clinical informatics tools that can plug into a national or international network for epilepsy centers could transform the field. A learning healthcare system model... more »

Voting

Awaiting Votes
Ideate
(@helbigi) kudos icon 9

Transformative Research Priorities for the Epilepsies

Large-scale clinical data and outcomes in rare epilepsies

During the last decade, we have seen tremendous progress in understanding the genetic basis of rare epilepsies. However, while genetic studies can be performed at scale, review of clinical data and outcomes still remains a largely manual tasks. This discrepancy has resulted in a significant "phenotyping gap" where the genetic cause of many rare epilepsies is known, but natural history is not well understood. Novel data... more »

Voting

Awaiting Votes
Ideate
(@djmogul) kudos icon 3

Transformative Research Priorities for the Epilepsies

Macroscopic network mechanisms of focal epilepsy

Much of the field of epilepsy still harbors long-held ideas about what creates the patterns of neural electrophysiology that results in focal seizures, a lot of which has not been experimentally established. Much of this activity may have the spatiotemporal characteristics that would be unlikely to be captured with standard imaging protocols. Better understanding of these mechanisms will not only better reveal the underlying... more »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon 1

Transformative Research Priorities for the Epilepsies

Translational models with human relevance

The American Epilepsy Society suggests that this priority be merged with priority (#1).

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 »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon +

Transformative Research Priorities for the Epilepsies

Unsolved genetic epilepsies- improve models first

The American Epilepsy Society does not recommend this for the top 4-5 priorities for the field. It should instead be a goal for 5-10 years from now, after the ability to develop improved models (priority #1 above) is achieved.

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 »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon 1

Transformative Research Priorities for the Epilepsies

Network interaction including comorbidities

The American Epilepsy Society considers comorbidities of epilepsy a high priority endeavor. Patients themselves, often independent of actual seizure frequency, remain underemployed or underachieving because comorbidities affect function in equal or greater measure than epilepsy itself. Furthermore, accumulating evidence finds that comorbidities and epilepsy have bilateral interactions; improvement in one comorbid domain... more »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon 6

Transformative Research Priorities for the Epilepsies

Accelerate development and validation of biomarkers

The American Epilepsy Society agrees that topic is a VERY high priority. We suggest a revision to include "onset of epilepsy" in its scope.

To date there have been numerous studies and meta-analyses on epilepsy biomarkers. Biomarkers for epilepsy versus seizure have often been blurred but should be considered distinct. Clinically useful biomarkers for seizures (i.e., a blood test), would have great value in the emergency... more »

Voting

Awaiting Votes
Ideate
(@seserman) kudos icon +

Transformative Research Priorities for the Epilepsies

Active, Involved Life Can Ward Off Depression in Adult Epileptic

These patients' reluctance to go out and live life to their lives to its fullest is what motivated me to develop my nonprofit, SEEZ (www.SEEZ.us) -- Support & Empower Everyone Zealously. SEEZ offers the resources, information, camaraderie, and support to people with epilepsy and other disabilities, along with their loved ones, through social media, local events, and more that will help them feel more confident embracing... more »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon 2

Transformative Research Priorities for the Epilepsies

Autoimmune, Immune and Infectious Causes

The American Epilepsy Society views this topic as a high priority that should encompass strategy to incorporate the expertise from experts in immunology and neuroimmunology. Some revisions would help to ensure its transformative nature.

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 »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon 1

Transformative Research Priorities for the Epilepsies

Identify those at higher risk for SUDEP

AES believes this is high public health priority as it will save lives i.e., to identify patients at higher risk for SUDEP and thus particularly in need of pharmaco-treatments or preventative devices (AICD) or patient surveillance. It will, however, be a major challenge due to ascertainment and low (sporadic) sample size worldwide. A genetic approach to identify genes associated with SUDEP is laudable though it seems... more »

Voting

Awaiting Votes
Ideate