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 ...
More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 ...
INDIANAPOLIS (WISH) — A new screening for newborns could expand the number of genetic diseases infants are tested for before they leave the hospital. The project is called BeginNGS, with the NGS ...
While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself poses a crucial hindrance. A new study ...
A new newborn screening test recently saved the life of a little girl with spinal muscular atrophy, a rare neuromuscular disease. Thanks to this test, now widely used in France, other children could ...
Arizona is expanding its newborn health screening program, even as the federal process for adding new disorders has stalled. The state plans to screen for 39 different rare disorders by 2027, up from ...
Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome ...
The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ...
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