(@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
(@emurray) kudos icon 1

Transformative Research Priorities for the Epilepsies

Broaden understanding of epileptogenesis

The American Epilepsy Society considers this a high priority. As in human cancer, there will likely be common and overarching processes or mechanisms that lead to the establishment of the epileptic network. By analogy, all cancers stem from abnormally exuberant cell proliferation, and epilepsy reflects abnormal synchrony of neural networks. But the processes and mechanisms leading to seizures in SCN1A may be very different... more »

Voting

Awaiting Votes
Ideate
(@emurray) kudos icon +

Transformative Research Priorities for the Epilepsies

New models of epileptogenesis must mimic human etiologies

The AES views this as the most important research endeavor for the next 5 years. We suggest a revision to explicitly state that new models must mimic human etiologies.

 

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 »

Voting

Awaiting Votes
Ideate
(@annapurna.poduri) kudos icon 14

Transformative Research Priorities for the Epilepsies

Accelerating precision diagnosis to precision treatment trending idea

This priority will transform epilepsy research by integrating modern science into modern care for patients with epilepsy.

For example, a patient with as yet unexplained non-acquired epilepsy should be considered to have genetic epilepsy until proven otherwise and appropriately evaluated. If the first line of evaluation is unrevealing he or she should have an iterative re-analysis of cause in tandem with empiric therapy.... more »

Voting

Awaiting Votes
Ideate
(@jayetta) kudos icon 17

Transformative Research Priorities for the Epilepsies

Laying the Foundation for an Epilepsy Moonshot trending idea

More substantive research priorities, however well framed and targeted, can not alone overcome the inefficiencies and silo-ed structure for clinical care and research in the epilepsies.

By integrating clinical care and research—the standard for decades in pediatric oncology—we will get on a path where we will start seeing improvements in the quality of life for all those living with and too often dying from epilepsy.... more »

Voting

Awaiting Votes
Ideate
(@eheinzen) kudos icon 5

Transformative Research Priorities for the Epilepsies

Modifier genetics to identify drug targets and mechanisms trending idea

For many genetic epilepsies the pathomechanisms are not known making rapid identification of novel drug targets challenging. Identifying genetic modifiers of high-risk epilepsy alleles using a variety of approaches (CRISPR screens, leveraging natural genetic diversity in model organisms, human modifier studies using large patient repositories) may inform key genes involved in disease mechanisms and could illuminate drug... more »

Voting

Awaiting Votes
Ideate
(@dboison) kudos icon 2

Transformative Research Priorities for the Epilepsies

Other

Metabolic and biochemical pathways are an understudied research area in the epilepsies. Biochemical pathways provide crucial links between gene expression (e.g. via epigenetic modification), energy metabolism (mitochondria, ATP), neuron-glia interactions, and finally neuronal excitability. Derailment of metabolic functions can affect a complex system such as the brain on multiple different levels and metabolism or biochemistry... more »

Voting

Awaiting Votes
Ideate