Following the death of his daughter Shay in 2011, geneticist and researcher at the University of Arizona (UA), Michael Hammer and a team of UA researchers were able to determine the genetic cause of her epilepsy.
Shay had developed epilepsy early in life and also had limited coordination and learning skills. Her Father, Michael Hammer had spent many years trying to find the cause of her epilepsy but the tests had proven inconclusive. In 2010, he took the decision to have his family's DNA sequenced and then he and his team analysed the findings. Many of his colleagues tried to dissuade him from undertaking this research but he said 'Well, even if there's a 1% chance of finding something, I'm going to try it'. The team were successful in identifying a mutation in a gene not previously associated with epilepsy but which was shown to have effects relevant to epilepsy.
The discovery led to a second study by the team who used DNA sequencing technology to find the causes of severe epilepsies in children from 10 different families. These children, like Shay, had developed seizures early in life coupled with developmental issues such as reduced mobility and autism. The DNA of both the parents and child were sampled and sequenced. The results of the study showed that 7 of the 10 children had genetic mutations identified as or suspected of causing epilepsy. This conclusive result was much higher than anticipated by the research team.
These findings may lead to improved diagnostic tests coupled with new treatments options for children, and could provide families with invaluable answers when their children have epilepsy coupled with other conditions. For Hammer it has been a personal journey and as he said "It's important for me to acknowledge that none of this would have happened without her".
Journal reference: Epilepsia, Article first published online: 3 MAY 2013