Genome Sequencing Finds Unknown Cause of Epilepsy
By Daniel Stolte, University Communications, February 23, 2012
Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.
It was the time of the Human Genome Project, and it had taken armies of sequencing robots working around the clock for almost a decade to unravel the complete sequence of the human genetic code – referred to as the genome – by churning out the DNA alphabet letter by letter.
Now a team headed by Michael Hammer from the University of Arizona applied Next Generation Genome Sequencing to decipher the entire DNA from a patient who had died from sudden unexplained epileptic death.
Not only did they find the likely culprit – a previously unknown mutation in a gene coding for a sodium channel protein in the central nervous system – but their findings offer some emotional relief and explanation to the patient’s family in the absence of a medical diagnosis and any family history of similar disease. The research team published its results in the March issue of the American Journal of Human Genetics.
“If you have a small child with severe epilepsy, not knowing what is causing it is a big burden to carry for the family,” said Michael Hammer, an associate professor in the UA’s department of ecology and evolutionary biology and a research scientist at the UA’s Arizona Research Labs. “It leaves a lot of open questions and sometimes even feelings of guilt.”
Read more at UA News: http://uanews.org/node/45094