DNA, genomics

Ambitious national genomics study claims children first beneficiaries of its data

[London, UK] The UK’s attempt to use ‘big data’ to crack the secrets of some previously intractable genetic diseases has started to help children.

Some adult results were announced from the project in February 2015 (in Newcastle). But the BBC has now detailed how a four-year-old called Georgia Walburn-Green, who has damaged eyes and kidneys and is unable to talk and whose condition had previously baffled the team caring for her, may have had her specific genetic abnormality finally identified, thanks to the ‘100,000 Genomes Project'.

Doctors suspected the child’s symptoms were down to her genes - a suspicion finally proven by data scientists at Great Ormond Street Hospital in London.

A team there conducted a probe of the combined three billion base pairs that comprise the DNA of the child and get parents to try and see what had gone wrong.

The result is certainty that a genetic abnormality in a gene called KDM5b had at last been identified as the culprit.

Along with Georgina, other children are starting to be helped via the data work, according to the team.

"It's really exciting to see the results coming through and the difference this can make for families,” says the academic leading the Great Ormond St work, Professor Lyn Chitty.

"It increases confidence in the project and shows that the application of genomics can live up to the promise of changing the way we diagnose and treat patients in the future.”

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