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Root of the Disease

The UK's 100,000 Genomes Project has made its first diagnoses of children, the BBC reports. The project, first announced in 2012, aims to sequence 100,000 people to learn more about the genetic underpinnings of cancer and rare disease.

Soon after she was born, Georgia Walburn-Green began having medical issues. At first, the BBC says doctors thought she had hydrocephalus though it soon became clear there was more going on. Georgia is small for her age — she's now four — with vision problems and damaged kidneys.

"And we don't know if she'll ever speak, she understands us and desperately tries but can't make the sounds she wants to," her mother, Amanda, tells the BBC.

Researchers from the 100,000 Genomes Project have traced Georgia's condition to a spontaneous mutation in the KDM5b gene. The BBC notes that Georgia's treatment won't change based on this new knowledge, but that it "offers hope that there will be a therapy in the future."

Other participants have had treatment changes based on findings from the project, it adds. For example, Jessica suffers from a condition that includes epileptic seizures, and researchers found that she had a mutation that leads to GLUT1 Deficiency Syndrome. That means, the BBC says, that a change of diet would likely be beneficial.

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