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 ...

Gene therapies can now prevent newborns with spinal muscular atrophy (SMA) being left paralysed - but only if administered at ...

When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

The 34-year-old announced on Sunday that her twin daughters have been diagnosed with the severe muscular disease.

Singer Jesy Nelson has pledged to "fight as much as I can" to get all babies tested for a rare muscle disease at birth, after ...

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, ...

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If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...

Ezra Thorman was not supposed to survive but was one of first babies in the world to be treated for spinal muscular atrophy ...

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 ...