Genetic disorders spotted by facial recognition technology


The use of facial recognition software which is similar to what is used in modern cameras may aid doctors in the diagnosis of rare genetic conditions.

This may make it possible for doctors to diagnose extremely rare genetic disorders by using a family photograph.

Computer software which has been developed at the Universities of Oxford and Edinburgh, is able to scan photos of patients’ faces and diagnose rare genetic disorders within a few hours. The software builds a description of the facial structure by the identification of the nose, mouth, eyes and other features.

There are many genetic conditions which are associated with facial structure changes, such as Angelman and Down’s syndrome.

Scanning photographs of different patients with the same genetic condition can allow for the identification of distinctive facial traits that are linked to a particular disorder.

Although genetic disorders are considered to be individually rare, the disorders collectively affect one in 17 persons. Of these, around one third may indicate symptoms that reduce quality of life, but most fail to obtain a genetic diagnosis.

The lead researcher from the MRC Functional Genomics Unit at Oxford University, Dr Christoffer Nellaker, said that a diagnosis of a rare genetic disorder can offer parent certainty and allow them to obtain genetic counselling on the risks for other children and how likely it would be for the condition to be transferred. He added that a diagnosis will also aid in the improvement of estimates of the progress of the disease. It may also indicate which of the symptoms are caused by the disorder and which are caused by other issues that may be treatable.

The team responsible for the development of the app state that one day doctors will have the facility to take a smartphone picture of a patient and run it through the software to find out which genetic disorder the patient may be suffering.

This method of diagnosis will be particularly useful in countries that do not have easy access to genetic tests.

Professor David FitzPatrick of the Medical Research Council Institute of Genetics and Molecular Medicine at Edinburgh stated that thousands of babies are born with genetic errors each year, which implies that they will not develop normally. Obtaining a firm diagnosis quickly is extremely important, however the large number of possible disorders makes this an extremely challenging task.

The new technology will aid doctors to quickly detect extremely rare genetic disorders and have the facility to identify new conditions.

The software was developed by software engineers based at Oxford University and guidance on the clinical images which were used to develop the software was provided by experts from the Medical Research Council Institute of Genetics and Molecular Medicine at Edinburgh. The findings have been reported in eLife.

Image Credit: elifesciences


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