New article: Facial recognition software diagnoses rare genetic disease read more at here http://www.spinonews.com/index.php/medical-news/item/3084-facial-recognition-software-diagnoses-rare-genetic-disease

Researchers have successfully used facial recognition software to diagnose a rare genetic disease in Africans, Asians and Latin Americans. The disease, 22q11.2 deletion syndrome, also known as DiGeorge syndrome and velocardiofacial syndrome, affects from 1 in 3,000 to 1 in 6,000 children.

The disease results in multiple defects throughout the body, including cleft palate, heart defects, a characteristic facial appearance and learning problems, healthcare providers often can't pinpoint the disease, especially in diverse populations.

The researchers studied the clinical information of 106 participants and photographs of 101 participants with the disease from 11 countries in Africa, Asia and Latin America. The appearance of someone with the disease varied widely across the groups.

Using facial analysis technology, the researchers compared a group of 156 Caucasians, Africans, Asians and Latin Americans with the disease to people without the disease. Based on 126 individual facial features, researchers made correct diagnoses for all ethnic groups 96.6 percent of the time.

This technology was also very accurate in diagnosing Down syndrome. DiGeorge syndrome and Down syndrome are now part of the Atlas of Human Malformations in Diverse Populations launched by NHGRI. When completed, the atlas will consist of photos of physical traits of people with many different inherited diseases around the world.

In addition to the photos, the atlas will include written descriptions of affected people and will be searchable by phenotype (a person's traits), syndrome, continental region of residence and genomic and molecular diagnosis.

Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world.

Maximilian Muenke, M.D., atlas co-creator and chief of NHGRI's Medical Genetics Branch, said, healthcare providers here in the United States as well as those in other countries with fewer resources will be able to use the atlas and the facial recognition software for early diagnoses. 

More information: [AJMG]