Facial recognition system helps diagnose rare genetic disease
WASHIGTON: Scientists have successfully used facial recognition software to diagnose a rare, genetic disease that causes multiple defects like cleft palate and learning problems, but is often hard to pinpoint. The disease, 22q11.2 deletion syndrome, also known as DiGeorge syndrome and velocardiofacial syndrome, affects about one in 6,000 children. Since 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 not pinpoint the disease, especially in diverse populations. The goal of the study is to help healthcare providers better recognise and diagnose DiGeorge syndrome, deliver critical, early interventions and provide better medical care. "Human malformation syndromes appear different in different parts of the world," said Paul Kruszka, a medical geneticist at the US National Human Genome Research Institute (NHGRI). "Even exper...