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 ...

Mandatory testing of 45 genetic disorders is designed to lead to treatment before symptoms do damage.

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 ...

UCSF Pediatrics Professor Jennifer Puck, MD, has spent decades pushing for universal newborn screening to detect severe combined immune deficiency (SCID), a rare but deadly genetic disorder. Today, ...

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 ...

February is Rare Disease month, and two Utah families are leading the way in newborn screening for Creatine Deficiency.

A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research ...

More than 50,000 babies are born in Kentucky every year. It is essential that we do everything possible to ensure they grow up healthy. For over half a century, almost all children received a newborn ...