Diagnosing Genetic Disorders with Facial Recognition Technology

With advancing technology, you can see a doctor from home using FaceTime or send a pic of your mole for a cancer diagnosis. And now, the same technology that automatically tags your photos on Facebook can help doctors diagnose rare genetic diseases.


Facial recognition technology dates all the way back to 1964, when computer programmers starting teaching their computers how to recognize human faces. Early operations could process about 40 pictures an hour in an attempt to match similar features using coordinates between pupils, outside corners of the eyes, hairline, etc. Early attempts struggled to cope with variations from photo to photo if the subject wasn’t posed in exactly the same position. In the mid-2000s, the Face Recognition Grand Challenge was sponsored by the FBI and Department of Homeland Security, among others, to bring attention and innovation to facial recognition technology.



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Now, researchers at the National Human Genome Research Institute (NHGRI) have produced software that uses facial recognition technology to help diagnose DiGeorge syndrome. A rare genetic disease, DiGeorge syndrome is caused by a defect in chromosome 22. Although its effects vary from person to person, the syndrome can result in cleft palate, low calcium levels, heart defects and a weakened immune system. There is no cure, but early interventions can improve the patient’s outlook through relevant treatments.


The breakthrough is particularly important because while DiGeorge syndrome afflicts African, Asian and Latin American populations in greater numbers, previous diagnostic tools were limited to examples of patients of Northern European descent. “Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations,” according to Dr Paul Kruszka, a geneticist at the NHGRI.


In addition to Down syndrome and DiGeorge syndrome, the researchers hope to add Noonan syndrome and Williams syndrome, and increase access to the diagnostic atlas for clinicians around the world.


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Laurie Breen

Laurie Breen is a freelance writer well-versed in research communications and grant writing. She received her Bachelors Degree in Psychology from Smith College and has worked previously at the University of Queensland's Centre for Clinical Research in Brisbane, Australia. Her favorite conversational topic is "antibiotic-resistant bacteria," making her a big hit at parties.