Early and Noninvasive Detection of Genetic Syndromes

Need:

Each year, nearly 1 million children are born with a genetic syndrome. Children with these disorders have a high incidence of serious medical complications and intellectual disability that require immediate treatment, so it is critical to detect those genetic syndromes as early as possible.

Unfortunately, the vast majority of these syndromes are not identified in utero or perinatally due to the high cost and inaccuracy of testing, limited access to specialized clinics and lack of outward symptoms at birth. Delay or error in diagnosis causes these children significant suffering, irreversible injury and even death, resulting in up to 53 % of hospital admissions and 20% to 30% of childhood deaths.

 

Solution:

We have created a low-cost, noninvasive facial analysis technology that identifies automatically specific clinical features associated with a wide array of genetic syndromes using only face photographs of children. We have also created mGene, a smartphone application that allows clinicians to screen newborns and young children without the need for blood tests and specialized genetic expertise, which are usually unavailable in community hospitals and the developing world. Unlike other screening tests for genetic disorders, mGene tells immediately if a child is at risk for a wide range of genetic disorders, prompting immediate referral to specialized clinics for comprehensive care.

Impact:

The accuracy of our system to detect a wide range of genetic syndromes is already 95%. Our system's high accuracy combined with lower clinical costs have a lifesaving potential especially for children whose condition is only subtly apparent in physical terms. The net effect will be a reduction in the morbidity and mortality for the one million children born worldwide annually with genetic syndromes. Ultimately, mGene will make sophisticated genetic expertise widely and affordably available.

Partners:

• Rare Disease Institute
• Center for Genetic Medicine Research
• Division of Neonatology
• United Arab Emirates Ministry of Health and Prevention
• National Institute of Biomedical Research, DRC
• George Washington University
• University of Colorado Denver
• Pompeu Fabra University
• NIH

Funding:

• NIH UL1 TR001876/KL2 TR001877
• Pediatric Innovation Fund
• Rare Disease Institute
• UAE Ministry of Health and Prevention