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

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

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, ...

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 ...

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 ...

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

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 ...

The cancer was detected because he was enrolled in a "world-leading research study" which is screening 100,000 newborn babies ...

The family were taking part in a study which is screening newborn babies in England for dozens of genetic conditions.