Scientists have successfully used the technique of facial recognition software to diagnose a rare, genetic disease that mainly affects children of Asia, Africa and those of Latin American descent. This breakthrough method paved a way for physicians to diagnose the disease just by clicking a photo.
22q11.2 deletion syndrome can be diagnosed using this technology. This syndrome is also known as Di George syndrome or Velocardiofacial syndrome. This affects from 1 in 3000 to 1 in 6000 children.
Healthcare providers often cannot diagnose this disease as this disease results in multiple defects in the body like cleft palate, heart defects, a characteristic facial appearance and learning problems. This technology simplified their diagnosis.
Paul Kruszka of the National Human Genome Research Institute (NHGRI) said: “Human malfunction syndromes appear different in different parts of the world. Even experienced physicians will face difficulties while diagnosing genetic syndromes in non-European population.”
How they made it successful
face recognition softwareClinical information of 106 participants and photographs of 101 participants with the disease from 11 countries in Africa, Asia, and latin America were studied by the clinicians. The appearance of someone with the disease varied widely across the groups.
Based on 126 individual facial features, 96.6 percent of the diagnosis were made correct. Now, researchers are trying hard to develop this technology, something similar to that used in airports. So that healthcare providers can take a picture of the patient from the cell phone and get its diagnosis done. This technology is also accurate in diagnosing Down’s Syndrome too.
The ultimate goal of developing this technology is helping healthcare providers better recognize and diagnose Di George syndrome, predict the early symptoms and provide better medical care.
