Professor Ingrid Scheffer

Professor Ingrid Scheffer

Laureate Professor Ingrid Scheffer has pioneered and led the fields of epilepsy genetics and epilepsy classification over 25 years in her work as a paediatric neurologist and epileptologist at the University of Melbourne, Austin Health and the Royal Children’s Hospital. With Professor Samuel Berkovic and molecular geneticists, she identified the first gene for epilepsy and subsequently discovered many more. Professor Scheffer was the first to describe multiple new epilepsy syndromes and refined our understanding of others. Now she is building on her work defining the genetic basis of epilepsy to develop precision treatments for these serious diseases.

She recently led the first major reclassification of the epilepsies in thirty years for the International League Against Epilepsy (ILAE). She has published more than 400 peer-reviewed papers, and in 2017 she co-authored the first study to show that medicinal cannabis is effective in epilepsy, published in the New England Journal of Medicine. She also leads research into the genetics of speech disorders, autism spectrum disorders, cortical malformations and intellectual disability.

Professor Scheffer has received a range of awards including the 2007 American Epilepsy Society Clinical Research Recognition Award, 2009 Royal Australasian College of Physicians Eric Susman Prize, ILAE Ambassador for Epilepsy Award, 2013 Australian Neuroscience Medallion, and was the L’Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012. In 2014, she was elected as a Fellow of the Australian Academy of Science and also elected as the inaugural Vice-President and Foundation Fellow of the Australian Academy of Health and Medical Sciences. Professor Scheffer sits on the National Health and Medical Research Council and is Director of Paediatrics at Austin Health. In 2014, she received the Prime Minister’s Prize for Science and was made an Officer of the Order of Australia “for distinguished service to medicine as a clinician, academic and mentor”.

Professor Scheffer’s website has more information on her research and achievements.

Topic for Genetic Epilepsy Conference 2018:

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.

 

The Genetic Epilepsy 2018 Conference was Supported by:

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