We earlier posted an article on the epilepsy genome. It had a great response and people have asked us to find out how many or what percentage or persons with epilepsy inherited it. Will here is a article from the lady that found the first gene getting an award and she says 1/3.
INGRID Scheffer is the Asia-Pacific L’Oréal-UNESCO For Women in Science Laureate for 2012 – and recipient of the $100,000 that goes with the award – in recognition of her pivotal work in establishing the genetic basis for epilepsy.
But 20 years ago, when she embarked on her PhD on families with epilepsy, it was regarded as unlikely to produce outcomes.
“The neurogeneticist I worked with laughed,” Professor Scheffer, a pediatric neurologist, recalls. But he warmly congratulated her in 1995, when as a result of her work with University of Melbourne collaborator Sam Berkovic, the first epilepsy “gene” was found by a team at Adelaide’s Women’s and Children’s Hospital.
She and Berkovic, who are based at Austin Health, have led the world in their field since then and of the 23 epilepsy genes now known to exist, the pair has been involved in the discovery of 13.
“People used to think epilepsy was caused by a hit on the head, a scar, a kick from a horse,” she says.
Professor Scheffer divides her time between the Austin and the Florey Neuroscience Institutes. She is Australia’s fifth winner of the award. Others include Nobel laureate Elizabeth Blackburn and Australian Academy of Science president, Suzanne Cory.
Source: TheAustralian.com
