This September marks the 60th anniversary of Newborn Screening (NBS), a landmark achievement that the US Centers for Disease Control and Prevention (CDC) considers one of the ten greatest public health achievements worldwide.
Today, newborns in all 50 states are screened within the first few days of life for a panel of 34 rare conditions. Infants born with one of these potentially life-threatening diseases often appear healthy at birth. Newborn screening rapidly identifies babies at risk so that they can receive potentially life-saving treatment.
PNRI is proud to pursue genetic research that will help expand the number of rare diseases that can be screened in newborns. Two of PNRI’s talented scientists, Dr. Cláudia Carvalho and Dr. Aimée Dudley, are conducting pioneering research into the genetic causes of rare, inherited diseases, leading to new and more precise ways to identify infants at the greatest risk.
