Science
GUARDIAN: The newborn screening study redefining early detection for rare diseases
By Hannah Merritt | March 5The survival rate in infants with severe combined immunodeficiency, a rare hereditary disease that prevents the body from producing immune cells, is 96% when they receive a bone marrow transplant in their first 3½ months of life. If transplantation is delayed, that number drops to 70%. Without treatment, most children die before their first birthday. This condition is rarely visible at birth and only becomes apparent after a major infection, often outside of the window of opportunity for treatment.
