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 ...

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 ...

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 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 ...

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 ...

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 ...

Kerri De Nies received the news this spring from her son's pediatrician: Her chubby-cheeked toddler has a rare brain disorder. She'd never heard of the disease — adrenoleukodystrophy, or ALD — but ...

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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 ...

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 ...

Two children with a rare genetic condition will live very different lives because one was tested at birth and the other was ...