Study successfully uses facial analysis technology developed at Children's National to identify Noonan syndrome in diverse populations

WASHINGTON – Researchers have successfully used facial analysis software to identify Noonan syndrome in diverse populations, according to an international study published in the Sept. 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used objective digital facial analysis software developed by researchers from the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System. The software enables users to compare the most relevant facial features characteristic of Noonan syndrome in diverse populations.

Noonan Syndrome is relatively common, affecting between 1 in 1,000 to 1 in 2,500 children, however few studies have been conducted in non-Europeans. For this study, the researchers evaluated children (average age of eight) with Noonan syndrome from 20 countries. Using the facial analysis software and clinical criteria, the researchers compared 161 white, African, Asian and Latin American children with Noonan syndrome with 161 people of the same age and gender without the disease. Using the software to analyze facial features, they were able to correctly diagnose patients with the disease from each ethnic group with 94 percent or higher accuracy.

“Our algorithm found widely spaced eyes as a significant facial feature in all ethnic groups and also highlighted facial features that are relevant to diagnosing the syndrome in each group,” said Marius George Linguraru, DPhil, developer of the facial analysis technology and an investigator in the study from Children’s National. Linguraru 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 Noonan syndrome 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 identifying Down syndrome, according to a study published in December 2016 and DiGeorge syndrome (22q11.2 deletion syndrome) in April 2017. Two additional studies in the series will focus on Cornelia de Lange 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.

Media Contact: Debbie Asrate | 202-476-4500