Giving genes a human face - UPDATED - September 10, 2007
The first big story to be feted at the British Association for the Advancement of Science Festival in York is a technique for analysing 3D digital images of faces which could speed up the diagnosis of some genetic disorders (BBC, Independent, Telegraph, press release).
Most people are familiar with the characteristic face-shape of children with Down’s Syndrome, but facial changes associated with 700 other genetic conditions can be so subtle, or the disorder so rare, that it is hard for even a trained clinician to spot them.
In a presentation at the festival Peter Hammond from University College London described a computer model for merging facial images of children with genetic disorders to create the ‘average’ face for each condition. “ ’Doctors can use this to focus in on the likely disorder before beginning genetic tests, which can cost £500 to £1,000 each, so the children and the parents should get a cheaper, quicker diagnosis’ ” (Guardian). But press interest is generally less about the money, and more about the chance of 'seeing' autism in the faces if young kids.
For the disorders cited in the press reports, including Fragile X syndrome, the most common form of inherited learning disability, Hammond has achieved a greater than 90 % success rate in distinguishing normal from affected children. However, in a paper published earlier this year on Fabry disease, the UCL team was only able to discriminate between normal and affected children adults in about 70-80 % of cases [corrected – 11/09/07].
Posted on behalf of Mary Muers
UPDATE – 11/09/07
According to a BBC article Hammond has become pretty annoyed by reports the scans can ‘detect autism’. It says: “He was, he said, extremely angry. His work had been misreported, he had been misquoted, and he wanted nothing more to do with the media.”
Although details are a bit sparse – that would be the not talking to the media bit -- Hammond seems most annoyed that the scans have been presented as diagnostic and that he was quoted as saying “you can spot a kid with Down's syndrome a mile away”.
Image courtesy BA/Peter Hammond
