Genetic Epilepsy Team Australia’s 2018 Family Conference

Professor Annapurna Poduri – Associate Professor of Neurology, Harvard Medical School, Associate in Neurology Epilepsy Genetic Program, Boston Children’s Hospital

Precision Medicine for Genetic Epilepsy – Small Steps Toward a Big Vision. As the keynote speaker, Anna 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.

Professor Ingrid Scheffer – Professor of Paediatric Neurology, The University of Melbourne and Florey Institute, Austin Health, and The Royal Children’s Hospital, Melbourne

Professor Steve Petrou – Deputy director of the Florey Institute, Head of the division of epilepsy and lead of Therapeutic Innovation Australia.

Therapeutic Approaches in Neurogenetic Disease. 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. 

Dr Snezana Maljevic – Senior Research Fellow, Epilepsy, The Florey Institute

Brain in a Dish: Modelling Epileptic Encephalopathy Using Human Stem Cells. 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. 

Assoc Professor Gavin Rumbaugh – Associate Professor, Department of Neuroscience, Scripps Lab, Florida

Development of Targeted Therapies for Genetically-Defined Neurodevelopmental Disorders. 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.

Professor Glenn King – Professional Research Fellow, Institute for Molecular Science, University of Queensland

How Can Venomous Animals Help us Understand and Treat Genetic Epilepsies? 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.