Your cell phone could now help diagnose rare genetic disease

Researchers have promised a quick diagnosis, where facial recognition software determines who suffers from a genetic disorder  that is hard to pinpoint.

Will we be able to diagnose rare genetic disorders one day as simple as clicking a selfie? Here is what the new study suggests:

Scientist have successfully used facial recognition software which is similar to that found in facebook and airports for diagnosis of a rare genetic disease known as 22q11.2 deletion syndrome.

22q11.2 also known as DiGeorge syndrome can be difficult to diagnose in diverse populations since it leads to multiple defects, including hearing loss, heart problems, a cleft palate and other distinctive facial features. Yet early intervention might be critical for the patients to get the right care.

In a study published in American Journal of Medical Genetics it was shown that doctors from 11 countries have submitted 101 photos for the study.Then facial analysis technology was used to compare a group of 156 Caucasians, Africans, Asians and Latin Americans suffering from the disease with people who don’t have it.

The researchers claim that they correctly diagnosed all ethnic groups 96.6 percent of the time.

In this era where smartphones are determining complicated stuffs, this software might have the potentiality in helping the doctors make quick assessments. Eventually there will be simpler tool which would enable doctors in clinics to take pictures of their patients on mobile and receive result instantly. But more clinical studies is required for that to happen.

The study on DiGeorge syndrome is the second in an NHGRI series testing facial recognition software as a tool to diagnose inherited diseases in diverse populations.

The first looked at Down syndrome, and the next will focus on Noonan syndrome and Williams syndrome, both rare but seen by many clinicians.

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