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 ...

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

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

Ollie Williams, aged five, is in a wheelchair and needs help eating and breathing - parents Ben and Amy don’t want to see ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

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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 ...

Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn ...

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

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 ...