Showing 4 ideas for tag "genetic"
(@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 »

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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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(@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 »

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(@annapurna.poduri) kudos icon 13

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 »

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