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Genome sequencing finds unknown cause of epilepsy
Date:2/23/2012

ing to find mutations that underlie those severe cases of epilepsy and take it beyond the benchmark in the literature right now by doing functional studies to confirm that we have found the right mutation," Hammer said.

The Hammer lab plans to establish a diagnostics facility to make whole genome sequencing available to the clinical community in hopes to help children with early onset epilepsy and other rare undiagnosed disorders.

"We want to repeat this experiment with many more patients," Hammer said. "We are ready to accept DNA from patients and carry out this type of study."

Veeramah added: "Right now we are doing basic research to identify all the mutations involved. Down the line the goal is to design drugs that specifically target the affected pathways."

Hammer said at the current cost of about $5,000 per fully sequenced genome, or $1,000 to sequence all the known human genes, the new approach could prove cost-efficient, too.

"The regular tests these patients would run up during their lifetime would vastly outweigh the cost of a whole-genome sequencing experiment."

He added: "Once you know what causes the condition, you can begin to be informed about management. Finding cures certainly is in the longer-run picture, even though it is not an option at this point. Until then, families suffer because they're just sitting in the dark and wondering. Did something go wrong during pregnancy? Did I do something to cause the baby's disorder? Finding the faulty gene can provide a vast amount of relief for the family."


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Contact: Daniel Stolte
stolte@email.arizona.edu
520-626-4402
University of Arizona
Source:Eurekalert  

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