Adding genomic sequencing to the standard newborn screening heel-prick test is changing how we diagnose kids with genetic diseases.

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, ...

The National Academies of Sciences, Engineering, and Medicine are private, nonprofit institutions that provide expert advice on some of the most pressing challenges facing the nation and world. Our ...

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 ...

Genomic newborn screening using whole-genome sequencing identified 1.6% of infants with high-chance, treatable genetic ...

Currently, babies are given the newborn blood spot test, formerly called the heel prick test, to check for 10 serious ...

The birth of a baby is a moment of immense joy, but it also brings with it many health considerations, especially for preterm ...

Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much ...

(InvestigateTV) — Rare disorders and conditions are caught in more than 12,000 babies born every year because of newborn screening done across the United States. But despite the critical need, an ...

Many babies enter the world with silent metabolic or genetic conditions. Today, standard newborn screening can check for some ...

Dr. James Gibson and his genetics clinic at Dell Children's Medical Center are expecting a first any day now: The first baby with a lysosomal storage disorder to come to the clinic for treatment ...