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

Expectant parents at the Jessop Wing in Sheffield are invited to take part in the Generation Study.

February is Rare Disease month, and two Utah families are leading the way in newborn screening for Creatine Deficiency.

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 ...

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 ...

An early diagnosis of hearing loss gave Isaac's family a head start on treatment and help.

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the ...

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 ...

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 ...

A TOP NHS doctor blasted health advisers for refusing to sanction a 17p test that screens newborns for a horrific disease ...

The newborn screening program for early identification of hereditary diseases, one of the most successful public health programs in United States, was introduced more than 60 years ago. As the ...

SPRINGFIELD, Ill. (WAND) - September is Newborn Screening Awareness Month, and the Illinois Department of Public Health is marking 60 years of screening efforts in the state. Newborn screening in ...