Facial recognition software plays a major role in detecting rare genetic disease


Researchers have successfully made use of facial recognition software to diagnose a rare genetic disorder commonly seen in Africans, Asians and Latin Americans.Facial recognition software plays a major role in detecting rare genetic disease

The research was conducted by scientists at the National Human Genome Research Institute, as part of the National Institutes of Health, along with collaborators. The research was published on March 23 in the American Journal of Medical Genetics.

Role of facial recognition software in detecting diGeorge syndrome

As the disease is commonly known as the DiGeorge or velocadriofacial syndrome, the scientific name of the disease is 22q11.2 deletion syndrome.

The disease leads to multiple defects in the body, such as heart problems, cleft palate, learning problems and a specific facial appearance. Due to the unusual symptoms, health specialists can’t always detect the disease, especially among diverse populations.

The main aim of the study is to assist specialists and health care providers to detect and diagnose the syndrome more quickly, in order to treat it as quickly as possible.

According to Paul Kruszka, M.D., a medical geneticist in NHRGI’s Medical Genetics Branch said: “The software is effective as various syndromes appear differently depending on the regions of the world, which makes it more complex for specialists to quickly diagnose a series of diseases, specifically among non-European populations.”

During the research, the scientists studied information from 106 participants and the photographs of 101 subjects who suffered from the disease. The participants were chosen from 11 countries like Africa, Latin America and Asia, as the appearance of different participants suffering from the disease varied according to the group.

After that, the team had used facial analysis technology to diagnose the disorder, by comparing a group of 156 Caucasians, Latin Americans, Asians and Africans, who either suffered from the disease or who formed the control groups.

The analysis was then made by comparing 126 facial features. The diagnosis was correctly detected with an accuracy of 96.6 percent. Also, this technology is very beneficial when it comes to diagnosing Down syndrome.

The Atlas of human malformations in different populations

DiGeorge syndrome and Down syndrome are both listed in the Atlas of Human Malformations in Diverse Populations, a program conducted in 2016. After its completion, this atlas will show a comprehensive and thorough database of various inherited diseases globally.