Ingrid Scheffer

Australian paediatric neurologist

Ingrid Eileen Scheffer identified the first gene directly linked to epilepsy, a discovery that fundamentally altered the clinical understanding of the condition. Based in Melbourne, she has spent her career bridging the gap between genetic research and paediatric clinical practice, providing families with more precise diagnostic tools and reproductive counselling options for complex neurological syndromes.

Education and Training

Born in 1958 in Melbourne, Scheffer completed her secondary education at Methodist Ladies' College in 1976. She pursued her medical training at Monash University, obtaining her Bachelor of Medicine and Bachelor of Surgery in 1983. Her specialized training in paediatric neurology took place at the Royal Children's Hospital in Melbourne. She later expanded her expertise through clinical training at the Great Ormond Street Hospital in London and focused on epileptology at the Austin Hospital. She eventually completed her PhD in neurology at the University of Melbourne in 1998.

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Research and Clinical Contributions

Scheffer's work centers on the characterization of epilepsy syndromes occurring from infancy through adulthood. By deciphering the genetics of these conditions, she has enabled more accurate diagnoses and tailored treatment protocols. Significant outcomes of her research include the description of Dravet Syndrome and Epilepsy limited to Females with cognitive disability. Her investigations into the aetiology of these disorders facilitate improved genetic reproductive counselling, shifting the field toward more evidence-based medical standards.

Professional Appointments and Recognition

Throughout her career, Scheffer has held various academic and clinical roles, including positions at the University of Melbourne, the Royal Children's Hospital, Austin Health, and the Florey Institute of Neuroscience and Mental Health. Her contributions to science have garnered numerous accolades, such as the L'Oréal-UNESCO Award For Women in Science in 2012, the GSK Award for Research Excellence in 2013, and the Prime Minister’s Prize for Science in 2014, shared with Professor Sam Berkovic. She is a Fellow of the Royal Society and the Australian Academy of Science, and was named an Officer of the Order of Australia in 2014.

Fast facts

Questions readers ask

What is Ingrid Scheffer's primary research contribution?

She is recognized for deciphering the genetics of epilepsy and characterizing novel epileptic syndromes that allow for better diagnosis and treatment.

Where has Scheffer conducted her medical research?

She has worked at institutions including the University of Melbourne, the Royal Children's Hospital, Austin Health, and the Florey Institute of Neuroscience and Mental Health.

Achievements

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