Programme could help diagnose rare genetic disorders

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First published in News

A NEW computer programme developed by Oxford University could help diagnose rare genetic disorders in children.

University researchers have created the programme which recognises facial features in photographs and looks for similarities with facial structures for conditions, such as Down’s syndrome and Angelman syndrome, a rare genetic condition relating to the nervous system that affects approximately 1 in 25,000 people.

Lead researcher Dr Christoffer Nellåker said: “A diagnosis of a rare genetic disorder can be a very important step. It can provide parents with some certainty and help with genetic counselling on risks for other children or how likely a condition is to be passed on.”

Michaela Middleton, of Arncott, near Bicester, welcomed the news about the research. Her son Finley, five, was finally diagnosed with GINS1 last October. The conditition is so rare there might be just one other person in the world with a similar diagnosis.

She said: “If this can help other families with children like Finley then that is a massive benefit to everybody.”

Comments (1)

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10:48am Thu 26 Jun 14

mutsxx says...

There's already an iPhone app out there called Face2Gene that does the same in seconds, not hours. I heard about it from a colleague and apparently it’s been used by leading geneticists for over 2 years. It’s also free… See www.fdna.com
There's already an iPhone app out there called Face2Gene that does the same in seconds, not hours. I heard about it from a colleague and apparently it’s been used by leading geneticists for over 2 years. It’s also free… See www.fdna.com mutsxx
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