Genetic scientists and researchers have finally been able to ascertain the root cause of a genetic mutation in humans that causes severe epileptic episodes. In a research of 10 children with epilepsy, with seven of them having undeterminable genetic history and complete diagnosis from conventional testing. Michael Hammer, the head and study leader of the Arizona Research Lab Division of Biotechnology at the University of Arizona, is ecstatic about the 70% success rate of their new approach at genetic testing.
The research done was a breakthrough on its own, as the genetic scientists opted not to perform the genetic testing by sequencing one gene after another, but opted for a different procedure: “whole-exome sequencing”. The difference between the two is that the latter is more efficient and less time-consuming, where conventional testing relied on combing through base pairs of a human genome, which has a 3 billion count; the exome sequencing simultaneously deciphers only actual genes.
The changes that have been identified in the DNA are recognized as the highest likely cause of the epilepsy disorder are the “De Novo” mutations. Scientists are hopeful that this new discovery could help in the progress of Epilepsy research. Though treatment is not automatically extracted from this study, the chances of finding the proper cure for epilepsy will progress more speedily.