Isovaleric acidaemia is a rare autosomal recessive metabolic disorder resulting from a deficiency in isovaleryl-CoA dehydrogenase, an enzyme critical for the catabolism of the branched-chain amino ...

From rare cancers caught early to dementia foretold decades in advance, newborn genomic testing raises an unsettling question ...

A committee of experts will conduct a study examining the current landscape of newborn screening (NBS) systems, processes, and research in the United States and consider sustainable adoption of ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

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 ...

Within a few days after birth, babies around the world undergo a quick needle prick to the heel. The blood drop that results is used to detect as many as 50 genetic disorders so that, if found, they ...

Congenital CMV is the most common nongenetic cause of hearing loss in children and a leading cause of other neurologic ...

The National Academies of Sciences, Engineering, and Medicine are private, nonprofit institutions that provide expert advice on some of the most pressing challenges facing the nation and world. Our ...