Detection of a Rare Genetic Disease
Recently, it was announced that a group of scientists used a piece of technology that has been around for quite some time for something other than it was initially designed for. The tech we are talking about is Facial Recognition software.
A National Human Genome Research Institute team developed a facial recognition method that has the ability to diagnose a rare genetic condition called DiGeorge syndrome in non-Caucasian populations.
It is believed that DiGeorge is caused by the deletion of a very small segment on chromosome 22 and this leads to many medical complications as well as cognitive conditions while making it very difficult to diagnose. However, it comes with a characteristic facial appearance but it varies widely across ethnicities thus making it hard to detect. Medical geneticist Paul Kruszka from NHGRI explains, “human malformation syndromes appear different in different parts of the world. Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations.”
So this is where the new application of the facial recognition software comes in. The methodology they used was this:
• they studied photos of 101 participants who had the rare disease from three countries, Latin America, Africa and Asia
• they then developed their facial recognition program and it was able to correctly identify and diagnose this condition with a 96.6% success rate during their trial runs.
A side benefit the team says is that they are now also able to diagnose anyone with Downs Syndrome.
It will quite possibly take some time for the researches to fully develop this technology so that it can benefit health care workers around the world. The eventual outcome is hoped would be a system that is as simple as a doctor taking a picture of the patient with their phone, sending the image off to be analysed and a correct diagnosis be made as fast as possible.