Ingrid Scheffer

AO MBBS PhD FRACP FAA FAES FRS PresAHMS, Melbourne, Australia

Laureate Professor Ingrid Scheffer’s work has resulted in major paradigm shifts in epilepsy syndromology and classification over many years. Her work has formed the essential basis for successful gene discovery such that her larger collaborative group has been the leaders in epilepsy gene identification for 18 years since they discovered the first gene associated with epilepsy. This body of work has resulted in insights into the biology of seizures.

Professor Scheffer is Chair of Paediatric Neurology at The University of Melbourne and Senior Principal Research Fellow at the Florey Institute of Neuroscience and Mental Health. Professor Scheffer is the Immediate Past President of the Australian Academy of Health and Medical Sciences.

Ingrid and her colleagues have described a range of novel epilepsy syndromes beginning in infancy, childhood and adult life. Her work has meant that children and adults with sodium channel disorders such as Dravet syndrome and related epilepsies are diagnosed earlier and treated appropriately which improves their long term outcomes. Her recent work on a fascinating disorder occurring exclusively in females, Epilepsy limited to Females with Mental Retardation, is changing the way family histories are interpreted and will benefit affected women and transmitting men by improving genetic counseling. She has considerably expanded our understanding of the spectrum of epilepsies associated with glucose transporter deficiency; this body of work carries major treatment implications as this disorder responds to the ketogenic diet. Her work is important as it has changed our concepts of the underlying neurobiology of genetic epilepsies.

More at http://www.ingridscheffer.com/about.html