Scripps Genomics Case Featured in Front-Page Article

Discovery of a DNA mutation tied to rare form of epilepsy gives girl, parents new hope

Scripps Translational Science Institute researchers discovered a genetic mutation tied to a rare form of epilepsy.

The discovery of a genetic mutation tied to a rare form of epilepsy by Scripps Translational Science Institute researchers offers the latest evidence of the power of genomic medicine, according to an article by U-T San Diego.


The report chronicles recent improvements in a San Diego girl after researchers sequenced her genome as part of the IDIOM Study, an ongoing project that uses whole genome sequencing to help determine the causes and treatments of idiopathic diseases – those serious, rare and perplexing health conditions that defy a diagnosis and standard treatment.


The girl’s physician, Robert Bjork, MD, made adjustments to her treatment regime based on the study’s findings.


“We’re hopeful that over time we will find other interventions that will help the quality of her life,” the girl’s mother told the U-T.


Read the U-T article: Through Genomics, Parents Find Answers

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