Scientists at Oxford University have developed a software that can detect the risk that a child has a genetic disorder by scanning family photos

Family Photo Scans: The Future of Rare Disease Diagnosis

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Scientists at Oxford University have developed a software that can detect the risk that a child has a genetic disorder by scanning family photos

Scientists at the University of Oxford have developed a revolutionary new software that can help diagnose someone’s risk of having a rare genetic disorder by scanning family photographs.

Most rare diseases have a genetic component, and interestingly, a significant proportion of rare genetic disorders (30 to 40 percent) are associated with facial structure abnormalities.

The researchers who created the software, Dr.Nellaker and Professor Zisserman, have named it the ‘Clinical Face Phenotype Space.’ The software works by scanning and analysing family photos and comparing them to a database of photos of individuals with known and diagnosed genetic disorders.

The software is unique in that is is able to analyse the facial features of an individual irregardless of the manner in which they are posing or other elements. This software could even compare the face of a child with the photographs of deceased relatives. This could help diagnose people who never suspected that they may have a rare disease, as they algorithm that the software is built on will cluster similar features into a group, and these can be compared.

Trials are already underway, and the scientists working on the project have built a database of 1,515 people to compare to 1,363 photo of people diagnosed with known genetic disorders. The results were encouraging, with the use of the software making the matching of the face of someone that had the same disorder 27 times more accurate.

This technology has significant implications for the field of medicine and diagnosis. The software could be designed as an app, allowing a doctor to simply take a photo of a patient to help them diagnose a rare condition.

Read more about it here: Scanning Family Photos Can Reveal Rare Genetic Disorders

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