Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, infants with some genetic diseases appear healthy at birth, but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma—symptoms common to a variety of metabolic disorders. For the physicians charged with their care, it is a race against time to determine which disorder is causing their fragile patient to decline.
For these newborns and their families, there is hope in the form of a new technology that can provide physicians with the information they need to rapidly diagnose and treat these patients. PNRI Senior Investigator Aimée Dudley, Ph.D., and her team have developed a powerful set of scientific tools that allows them to predict whether a change in the genetic sequence of a specific gene is likely to cause disease.
