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 ...

Mandatory testing of 45 genetic disorders is designed to lead to treatment before symptoms do damage.

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 ...

BUFFALO, N.Y. (WIVB) — The Federal Newborn Screening Advisory Committee voted to add Krabbe Leukodystrophy Disease to the recommended newborn screening panel (RUSP), which is a huge victory for Hunter ...

Minnesota's new universal newborn screening program for congenital cytomegalovirus (CMV) identified infants with neurologic abnormalities and those at risk for permanent hearing loss who otherwise ...

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

BOSTON -- The time for universal congenital cytomegalovirus (cCMV) screening may well be here, researchers said. In a study of nearly 24,000 newborns across six hospitals in Minnesota, testing for ...

It could be years before Wisconsin begins testing for a rare but potentially deadly disease in newborns. The test would be for Krabbe, a recessive genetic condition that belongs to a group of ...

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 ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...