I got a blood test as a newborn that changed the course of my life forever. The test, part of newborn screening performed on babies across the U.S. led to my being diagnosed with a rare inherited ...
Growing up with a rare genetic disorder, Pam Kowalczyk often felt like no one truly understood her daily struggles. Years later, that sense of isolation changed in a life-altering way, when she ...
WARREN, N.J., April 25, 2025 /PRNewswire/ -- PTC Therapeutics, Inc. (PTCT) announced today that the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has ...
Suggested Citation: "1 Introduction." National Academies of Sciences, Engineering, and Medicine. 2025. Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence.
Soon after your baby is born, they will be taken for their routine newborn screening which tests for a series of health ...
SAN RAFAEL, Calif., Feb. 27, 2026 /PRNewswire/ -- BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today announced that the U.S. Food and Drug Administration (FDA) has approved the company's supplemental ...
Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...