How a family photo could soon diagnose some of the rarest genetic diseases

Posted: Published on June 24th, 2014

This post was added by Dr Simmons

Many genetic conditions such as Down's syndrome, Fragile X and Progeria are associated a distinct facial appearance New software uses facial recognition technology to scan photos of faces from regular family snaps It then builds a description of the structure of the face from various features such as corner of eyes, nose, mouth Scanning photos helps identify distinctive facial traits of associated with particular conditions Software, developed by Oxford and Edinburgh scientists, can identify disorders that affect only a handful of people

By Anna Hodgekiss

Published: 18:02 EST, 23 June 2014 | Updated: 18:44 EST, 23 June 2014

Doctors can now diagnose extremely rare genetic conditions simply using a family photo.

This is thanks to computer software that can diagnose rare genetic diseases from snaps in just a few hours.

The software, developed at the Universities of Edinburgh and Oxford, scans ordinary photographs of patients faces using facial recognition technology - similar to that used by Facebook.

Many genetic conditions are associated with changes in facial appearance. Image above shows the typical distinct facial features of people with the following conditions (top L-R): Angelman syndrome, Apert, Cornelia de Lange, Down's syndrome (bottom L-R) Fragile X, Progeria, Treacher Collins, Williams-Beuren syndrome

This builds a description of the structure of the face by identifying corners of eyes, the nose, the mouth and other features.

Many genetic conditions such as Downs syndrome and Angelman syndrome are associated with changes in facial appearance.

These occur because of the large number of genes that are involved in the development of the face and skull as a baby grows in the womb.

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How a family photo could soon diagnose some of the rarest genetic diseases

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