ICT For Life Sciences Forum

Paroxysmal neurological events – The new genetics solves age-old questions

Prof. Ingrid Scheffer – Monday 15 October 2012

For many years, there was debate about whether paroxysmal events occurring in sleep were a type of epileptic seizure or a movement disorder. Similarly the aetiological relationship between movement disorders and epilepsies occurring in one person has been a matter of intense scrutiny. With the advent of the new genetic techniques such as whole exome sequencing, we are beginning to shed light on these age-old questions. Gene discovery is showing that one gene may cause both disorders occurring in different anatomical substrates and at different ages. Identification of the molecular basis is the initial step in devising novel targeted therapies for these severe disorders.

Professor Ingrid Scheffer MB BS PhD FRACP
Chair of Paediatric The Florey Institute, and Neurology Research, Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children’s Hospital, Melbourne
Director of Paediatrics, Austin Health, Melbourne, Australia
Professor Ingrid Scheffer is a paediatric neurologist and epileptologist at the University of Melbourne, Australia. Her work together with Professor Sam Berkovic, with the molecular geneticists at the Women’s and Children’s Hospital, Adelaide, has led the field of epilepsy genetics research over the last 21 years. This collaboration resulted in identification of the first epilepsy gene and more than half of the genes currently known. Professor Scheffer has described many novel epilepsy syndromes and continues to work on genotype–phenotype correlation. Professor Scheffer’s research interests include genetics of epilepsy, epilepsy syndrome classification, and genetics of autism spectrum disorders and speech and language disorders. She was awarded the 2007 American Epilepsy Society Clinical Research Recognition Award, the 2009 Eric Susman Prize from the Royal Australasian College Of Physicians and she was awarded the L’Oreal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012. Professor Scheffer is currently Chair of the International League Against Epilepsy Commission for Classification and Terminology.

Monday 15th October 2012

Venue:  The Auditorium, Melbourne Brain Centre
Corner Royal Parade and Genetics Lane, Parkville

Refreshments 5pm-6pm
Presentation 6pm-7pm

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