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

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.

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 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 benefits of newborn screening identified in the study presented here encompass not only the achievement of motor milestones, but also a reduced need for ventilator support or tube feeding and a ...

WASHINGTON — Leadership and coordination at the national level are needed to build on the strength of screening programs that test all newborn babies’ blood for serious health conditions and to ensure ...

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 ...