How a Familiar Face Can Lead to a Rare Disease Diagnosis

Many rare diseases cause unique changes to facial features that can provide insights for doctors seeking searching for a diagnosis. Researchers at Children’s National Hospital have developed software uses machine learning technology and images captured with a cellphone to quickly recognize disease patterns not immediately obvious to the human eye to help physicians accelerate the diagnosis of genetic syndromes by recommending further investigation or referral to a specialist in seconds. We spoke to Marius George Linguraru, who led the Children's National team that developed the digital biometric analysis software, about the diagnostic tool, how it works, and a deal with a newly formed company to commercialize the technology.