Genetic Epilepsy Team Australia’s 2018 Family Conference

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As the keynote speaker, Prof Poduri will review a modern vision of precision medicine for epilepsy. After a brief review of epilepsy genetics, she will discuss a framework for precision medicine in epilepsy that thrives on partnerships among physicians, researchers, and parent-led organizations. Some of the key issues to consider include identifying clinical endpoints, the choice of models in the laboratory setting, and the clinical systems in which we will try to implement novel, precision therapies. The talk will attempt to combine aspirational and practical issues, challenging the status quo but also being realistic about what we still need to accomplish to work toward precision medicine.

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In the last year, there have been seminal discoveries in our understanding of the genetics of the epilepsies. Ingrid will discuss what we mean by developmental and epileptic encephalopathies and why finding the cause is essential for the development of precision therapies. New genetic discoveries will be presented including the issue of mosaicism that is critical for families who would like more children and the steps that need to be taken so that families can make more informed decisions. She will also talk about new insights into hidden mutations in what used to be called ‘rubbish’ DNA, which we now know holds promising answers to the cause of specific forms of epilepsy. These exciting times in the genetics of epilepsy mean that the field is fast-paced and scientific discoveries are changing the way we approach these disorders.

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This talk will provide insights into the rationale, methodology and use of induced pluripotent stem cells to study epilepsy and develop new treatments. This exciting technology has emerged in the recent years as one of the most promising tool in disease research and we will look into the opportunities and challenges specific to the modelling of epileptic encephalopathies.

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Rare genetic variants are known to cause epilepsy and related neurodevelopmental disorders. When the causal link is a single gene, it is possible to create highly specialized experimental systems for the purpose of producing tailored-made therapies for a given patient group. My talk will provide an overview of our efforts to create cutting-edge infrastructure and model systems that enable the identification and validation of drug-like compounds that target a genetically-defined neurodevelopmental disorder with epilepsy.

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Knowledge of the genetic underpinnings of a disease provides opportunities to develop therapies that precisely target disease mechanisms. The talk will introduce three major modalities that can be used to deliver on the promise of “precision medicine”. In particular the promise of RNA based therapies that can precisely address many of the common genetic disease mechanisms.

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Many epilepsies arise from genetic mutations in ion channels. Venoms are the best natural source of ion channel modulators and therefore they provide unique tools to help us understand and treat genetic epilepsies.