The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and ...

Established in 2025, the Newborn Screening Collaborative (NBSC) is a volunteer group of patient advocacy, public health, and ...

If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control ...

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 ...

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 ...

Before your baby says their first word, their ability to hear it matters. This National Newborn Screening Awareness Month, WTOP explores why early hearing tests are essential for newborns — and what ...

BUFFALO, N.Y. (WIVB) — The Federal Newborn Screening Advisory Committee voted to add Krabbe Leukodystrophy Disease to the recommended newborn screening panel (RUSP), which is a huge victory for Hunter ...

Elisa Seegar’s son, Aidan, was 7 when he died from a rare condition that could have been treated early if he had been screened for it as a newborn. Although Florida is one of the states that screens ...