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Discovering the cause of epilepsy

Laureate Professor Ingrid Scheffer is a paediatric neurologist who is in New Zealand this week to share with audiences her research over 25 years discovering genes which cause epilepsy in children. She is visiting from Australia as the 2016 Royal Society of New Zealand Distinguished Speaker.

Epilepsy affects up to 4% of the population, with onset in childhood in 80% of cases. The disease is often associated with significant social, psychological, physical and learning difficulties.

In 1995 Professor Scheffer and her colleagues discovered the first gene for epilepsy. Prior to that Professor Scheffer says people denied that genetics played a role in epilepsy and were keen to attribute seizures to a host of other causes such as head injury and infection. “Historically, it was thought to be due to demonic possession.”

Following the discovery of the first epilepsy gene, more than 40 epilepsy genes have been discovered, about half by Professor Scheffer and her research collaborators.

“Meticulous clinical research coupled with genetic studies has found that genes underpin many of the severe and also the milder forms of the disease,” she says.

Professor Scheffer says that identifying the causative gene in an individual is important as it allows specific treatment to be initiated and means the child is not subjected to further invasive and expensive investigations. It also gives the family a specific diagnosis.

“This is very valuable as they have often blamed their child’s epilepsy on themselves or specific events and bear the guilt of this belief. Having an answer regarding what caused the disease means that they can move forward and find the best therapies for their child.”

“Importantly they can look for disorders related to the genetic abnormality such as autism spectrum disorder and depression. Epilepsy gene discovery is the first step towards the development of targeted therapies for these devastating disorders. This is the way forward in terms of improving outcome for both seizures and development.”

Professor Scheffer has received many awards for her research, including the L’Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012 and the Australian 2014 Prime Minister’s Prize for Science.

Professor Scheffer co-leads the Epilepsy Genetics Program at the University of Melbourne with Professor Sam Berkovic. Associate Professor Lynette Sadleir from the University of Otago, Wellington is an associate of this research group. She says the research group has made “paradigm-shifting” contributions to concepts underlying modern epilepsy knowledge.

“I started collaborating with Ingrid about 15 years ago. I established an epilepsy research group in Wellington in 2007, which has been funded by Health Research Council of New Zealand and CureKids.”

“The novelty in our science lies not so much in the methods, which are rigorous and have proven to be highly productive, but in our ability to analyse the patients’ clinical features to recognize new types of epilepsy and their genetic patterns.”

Royal Society of New Zealand Distinguished Speaker tour details

AUCKLAND | 6pm Monday 11 April
Dorothy Winstone Centre, Auckland Girls Grammar School, Gate 2, 16 Howe Street, Newton, Auckland
(Free parking available at Gates 2 and 4)
 

TAURANGA | 7pm Tuesday 12 April
Tauranga Yacht Club, Sulphur Point, Tauranga
($5 cash charge at the door to cover refreshments which will be served from 6.30pm)

WELLINGTON | 6pm Wednesday 13 April
Nordmeyer Lecture Theatre, University of Otago Wellington, Mein Street, Newtown, Wellington

NELSON | 6pm Thursday 14 April
Maitai Room, Rutherford Hotel, Nile Street, Nelson

CHRISTCHURCH | 6pm Friday 15 April
The Grange Theatre, Middleton Grange School, 50 Acacia Avenue, Riccarton, Christchurch

 Tickets are free and can be booked at www.royalsociety.org.nz

About Professor Ingrid Scheffer AO

Ingrid Scheffer is a physician-scientist whose work as a paediatric neurologist and epileptologist at the University of Melbourne has led the field of epilepsy genetics for over 25 years.  In collaboration with Professor Samuel Berkovic and molecular geneticists, she helped identify the first epilepsy gene and many more genes subsequently.

Ingrid Scheffer has received many awards including the L’Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region for 2012 and the Australian 2014 Prime Minister’s Prize for Science. She was elected as a Fellow of the Australian Academy of Science in 2014 and also elected Vice-President and Foundation Fellow of the Australian Academy of Health and Medical Sciences.  In 2014 she was awarded the Order of Australia.

The Royal Society of New Zealand Distinguished Speaker series is generously supported by the David and Genevieve Becroft Foundation. 

 
 
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