The inspiring story of Jessica

All too often the news is filled with stories that would test anyone’s faith in humanity, but every so often, you hear a story that inspires you, and it really sticks. Recently at a meeting, I attended a talk about the 100,000 genomes project, and the speaker gave a short case study about Jessica. Jessica is a four year old girl who had an undiagnosed developmental disorder which made her epileptic and reduced her brain function. By sequencing her entire genome, researchers identified one tiny change to her DNA, in a gene called SLC2A1. This change affected a protein in her brain, stopping her brain from transporting glucose properly. Simply by putting Jessica on a high protein and high fat diet, low in glucose (called a ketogenic diet), they expect her brain function to improve and that her epilepsy will be more easily controlled. Stories like this make me proud to be a scientist!


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