Genetic Epilepsy Team Australia’s 2018 Family Conference
The 2018 Family Conference on Genetic Epilepsy was a great success with over 100 delegates from all around Australia, representing families with a range of genetic epilepsies. Delegates heard about the latest in genetic epilepsy from world-renowned clinicians and researchers and had the opportunity to meet with other families affected by genetic epilepsy.
If you’re looking for videos of the conference, check out full replays of all the lectures at the conference resource page.
Videos of individual lectures can also be found by clicking each speaker’s name in the program below for via the speakers’ page.
Thanks to our wonderful speakers and to everyone who participated in the conference. We look forward to working together with you to help find a cure for genetic epilepsies.
|9:00am – 9:45am||Professor Annapurna Poduri||Precision Medicine for Genetic Epilepsy – Small Steps Toward a Big Vision|
|9:45am – 9:50am||Scotty Sims – Secretary and Co-Founder KCNQ2 Cure Alliance|
|9:50am – 10:35am||Professor Ingrid Scheffer||New Discoveries in Epilepsy Genetics Transform Clinical Care|
|10-:35 – 10:40am||Claire Audibert-Legué – KCNQ2 Parent|
|10:40am – 11:00am||Morning tea|
|11:00am – 11:45am||Dr Snezana Maljevic||Brain in a Dish: Modelling Epileptic Encephalopathy Using Human Stem Cells|
|11:45am – 11:50am||Monica Weldon – President and Founder Bridge the Gap|
|11:50am – 12:35pm||Professor Gavin Rumbaugh||Development of Targeted Therapies for Genetically-Defined Neurodevelopmental Disorders|
|12:35pm – 1:30pm||Lunch and group photo|
|1:30pm – 2:15pm||Professor Steve Petrou||Therapeutic Approaches in Neurogenetic Disease|
|2:15pm – 2:20pm||Kimberly Hoffman – Dravet Sibling|
|2:20pm – 3:05pm||Professor Glenn King||How Can Venomous Animals Help us Understand and Treat Genetic Epilepsies?|
|3:05pm – 3:30pm||Afternoon tea|
|3:30pm – 3:35pm||Will Pierce – SCN2a Champion|
|3:35pm – 4:30pm||Panel Discussion||Sara James leads the panel of Professors|
Download the conference program booklet here.
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
New discoveries in epilepsy genetics transform clinical care. 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.
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.
GETA: GET A Team, GET A Target, GET A Cure
The Genetic Epilepsy Conference 2018 was Supported by: