NINDS Public Crowdsourcing Community Ideas

We propose a bold initiative to share data, infrastructure, new technologies and methods across centers to tackle some of the major challenges in treating refractory epilepsy. There is a clear gap between recent advances in technology to treat refractory seizures and their clinical translation. This is largely because individual centers do not have a sufficient number of patients or technical know-how to do the statistically... more »

Some of the greatest progress right now in precision therapies for genetic epilepsies is the result of parents of children with genetic epilepsies forming nonprofit organizations. These non-profits then raise funds for medical research. These organizations understand the urgency of the situation and they drive progress by being laser-focused on a specific genetic epilepsy. These genetic epilepsies are arguably among the... more »

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 »

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 »

We need a better protocols for tailoring anti-seizure medication (ASM) regimes or surgical treatment options for our children, especially the early-onset, drug-resistant epilepsies (DRE) within the DEE families - one that acts with urgency to define the best treatment available in an individualized plan based on the knowledge of the diagnosis, the types of seizures, and the values of the child and family. Yes, please... more »

This idea would accelerate promising treatments for the many stakeholders interested in advancing genetic therapies. Many of the patient advocates for monogenic epilepsies are viewing genetic therapies and a potential path towards a cure, with many working independently to achieve their goals. There have been innumerable advances in genetic diagnoses, availability of genetic testing (although there is more to do) and... more »

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 »

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 »

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 »

Understanding the Genotype-Phenotype Relationship (Relevant to areas: 1A, 2A, 2F, 3C)

Our understanding of the major genes associated with causal-mutations in the genetic epilepsies has vastly increased in the last two decades, there is still so much that is poorly understood about how genotypes correspond to phenotypic outcomes amongst patients with similar causal mutations. Researchers have begun to investigate the... more »

If more research was done, specifically on the link between epilepsy and late stage pregnancy, more OB/GYNs could be educated on the need to induce earlier to prevent epilespy.