Newborn babies should be given a genomic sequencing check to assess their vulnerability for hundreds of diseases, according ...

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

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 ...

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, ...

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

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

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 ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. A little over 40% of parents did not know about the ...

This archived news story is available only for your personal, non-commercial use. Information in the story may be outdated or superseded by additional information. Reading or replaying the story in ...

Hereditary Tyrosinaemia Type 1 (HT1) is a rare, genetically inherited disorder that affects around 7 babies per year in the UK. Left untreated, it can lead to severe complications such as organ damage ...

There are plans to add two more genetic disorders for screening for Wisconsin’s newborn screening program. X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysaccharidosis Type 1 (MPS 1) will be part ...