New technology promises rare disease detection by facial recognition

A group of researchers have successfully employed a facial recognition software in the process of diagnosing a rare genetic disorder the DiGeorge syndrome and it affects 1 in 3,000 to 1 in 6,000 children.

This software will help specialists and health care providers to recognize and diagnose the syndrome more easily, in order to deliver medical interventions earlier and more efficiently.

Published in the American Journal of Medical Genetics, the research was carried out by scientists with the National Human Genome Research Institute, as part of the National Institutes of Health, along with their collaborators.

Medically tertmed as 22q11.2 deletion syndrome, the DiGeorge or velocadriofacial syndrome causes multiple defects of the body, including heart problems, cleft palate, learning problems and a characteristic facial appearance. Though the syndrome causes many defects, because of the very unusual symptoms, health specialists can't always pinpoint the disease, especially among very diverse populations.

As part of the research, the scientists analyzed information from 106 participants, as well as photographs of 101 subjects who suffered from the disease. The subjects were chosen from 11 different countries in Africa, Latin America and Asia, as the appearance of different subjects suffering from the disease was very different inside this group.