New study successfully uses facial analysis technology developed at Children's National to diagnose rare genetic disease

WASHINGTON – Facial analysis software can assist clinicians in making accurate diagnosis of 22q1.2 deletion syndrome (also called DiGeorge syndrome), according to an international study published in the April 2017 issue of the American Journal of Medical Genetics. Led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, the study used objective digital facial analysis software developed by researchers from the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System to compare the most relevant facial features characteristic of DiGeorge syndrome in diverse populations.

The researchers acquired pictures from local doctors in 11 different countries for this study. Using the facial analysis technology, they compared a group of 156 Caucasians, Africans, Asians and Latin Americans with DiGeorge syndrome to people without it. Based on a selection of 126 individual facial features, they were able to correctly diagnose patients with the disease from each ethnic group with 96.6 percent or higher accuracy.

“The results of the study demonstrated that the identification of rare diseases benefits from adapting to ethnic and geographic populations,” said Marius George Linguraru, D.Phil., developer of the facial analysis technology and an investigator in the study from Children’s National. In reference to the facial analysis technology, Linguraru added he and his team are working to create a simple tool that will enable doctors in clinics without state-of-the-art genetic facilities to take photos of their patients on a smartphone and receive instant results.

This study will be used in the NIH’s Atlas of Human Malformation Syndromes in Diverse Populations (www.genome.gov/atlas), a free resource to help clinicians around the world diagnose birth defects and genetic diseases in people of diverse ancestry.

            The technology was also highly accurate in diagnosing Down syndrome, according to a study published in December 2016. Two additional studies in the series will focus on Noonan syndrome and Williams syndrome.

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov.

The Sheikh Zayed Institute for Pediatric Surgical Innovation is pursuing the goal of making pediatric surgery more precise, less invasive and pain-free. By combining research and clinical work in the areas of imaging, bioengineering, pain medicine, immunology and personalized medicine, the Institute’s physicians and scientists are developing knowledge, tools and procedures that will benefit children globally. Learn more at www.childrensnational.org/innovationinstitute.

Contact: Amy Goodwin at 202-476-4500