Huge studies into the genetic causes of epilepsy have started to produce results. The US-led studies, called EPGP and Epi4K, involve 150 scientists working in 40 institutions over three continents. The studies have discovered 25 new mutations on nine key genes that are behind some severe childhood epilepsies. Among those were two genes never before linked to this kind of epilepsy. Scientists hope that the studies will lead to a way to test newborn babies for the risk of developing epilepsy – and help develop precise drug treatments.
Genes carry the information about a living organism from generation to generation: hair colour, eye colour, height, and so on. Genes are then mixed together when a child is produced. Sometimes, genes can ‘mutate’ or be damaged during the copying process. This can then lead to conditions like epilepsy, autism or cystic fibrosis.
“The limitations of what we currently can do for epilepsy patients are completely overwhelming,” said Daniel Lowenstein, one of the scientists who are overseeing the study. “More than a third of our patients are not treatable with medication, so the idea of finding specific drug targets, instead of a drug that just bathes the brain and may cause problems with brain functioning, is very appealing.”
A ‘drug target’ is a part of the body that scientists want a drug to specifically work on.
The findings are published in the scientific journal, Nature.