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

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

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

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

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 ...

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

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 ...

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

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 ...

A couple whose son died from a rare genetic condition are encouraging others to take part in screening which they say could have saved his life. Priya and Abhishek Pancholi, from Leicester, had their ...

The Hospital Authority on Monday said it hopes that all private hospitals will join its newborn screening programme ...

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 ...