Lancet study proves that NHS refusing to screen for spinal muscular atrophy (SMA) as part of the newborn heel prick test is ...

The UK National Screening Committee published its decision to advise against screening for metachromatic leukodystrophy (MLD) ...

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

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, ...

SAN DIEGO--(BUSINESS WIRE)--Fore Genomics, Inc. announced the launch of its revolutionary FORESITE 360™ service using whole genome sequencing (WGS) today, which gives you a complete map (100%) of your ...

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 ...