Laureate Professor, Chair of Pediatric Neurology, The University of Melbourne; Honorary Senior Research Fellow, The Florey Institute of Neuroscience and Mental Health; Honorary Research Fellow, Murdoch Children's Research Institute; Director of Pediatrics, Austin Health.Laureate Professor Ingrid Scheffer AO MB BS PhD FRACP FAES FAHMS FAA FRSProfessor Ingrid Scheffer AO is a physician-scientist whose work as a paediatric neurologist and epileptologist at the University of Melbourne and Austin Health has led the field of epilepsy genetics over more than 20 years, in collaboration with Professor Samuel Berkovic and molecular geneticists. This resulted in identification of the first epilepsy gene and many more genes subsequently.
Professor Scheffer has described many novel epilepsy syndromes and refined genotype-phenotype correlation of many disorders. Her major interests are in the genetics of the epilepsies, epilepsy syndromology and classification, and translational research. She collaborates on research focused on the genetics of speech and language disorders, autism spectrum disorders, cortical malformations and intellectual disability. She led the first major reclassification of the epilepsies in three decades, published in March 2017, for the International League Against Epilepsy. She has received many awards, including the 2007 American Epilepsy Society Clinical Research Recognition Award, the L'Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012 and the ILAE Ambassador for Epilepsy Award. In 2014, she was elected as a Fellow of the Australian Academy of Science, and also as Vice-President and Foundation Fellow of the Australian Academy of Health and Medical Sciences. In 2019, she is President-Elect of the Australian Academy of Health and Medical Sciences. She was a co-recipient of the 2014 Australian Prime Minister's Prize for Science and she was awarded the Order of Australia in 2014. In 2018, she was elected as a Fellow of the Royal Society.
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FEATURED Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
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