Showing 5 ideas for tag "genetics"
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2020 Epilepsy Research Benchmarks

Understanding the Genotype-Phenotype Relationship

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 »

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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 »

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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 »

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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 »

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(@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 »

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