Showing 5 ideas for tag "genetics"
(@laura.lubbers) kudos icon 1

Transformative Research Priorities for the Epilepsies

Advancing genetic therapies for monogenic epilepsies

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 »

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(@ilenepennmiller) kudos icon 14

Transformative Research Priorities for the Epilepsies

Urgent Call to Structurally Transform the Epilepsy Ecosystem trending idea

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 trending idea

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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(@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 »

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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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