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To Find a Disease Variant

Genome sequencing is helping to quickly identify rare genetic disorders affecting young children, the BBC News reports. It adds that beginning next year, all seriously ill children in England with an unknown disorder will be able to undergo genetic analysis.

According to the BBC, this follows on findings from the Next Generation Children research project at Addenbrooke's Hospital and the University of Cambridge. Researchers there have sequenced the genomes of 350 infants and children in intensive care, who presented with symptoms ranging from epilepsy to reduced growth. Of those children, they found that two-thirds harbored spontaneously occurring, rather than inherited, variants, the BBC says.

As this is rolled out across England, the BBC writes that infants and children will be more quickly diagnosed, which could then lead to changes in their medical management. "Parents will no longer have to suffer an agonizing diagnostic odyssey of going to different specialists repeating their story and we can use that time focused on the care of the child," Cambridge's Lucy Raymond tells the BBC.