The Utah Newborn Screening Program tests all newborns in Utah for over 40 medical conditions that can affect their growth, development, and long-term health. While many people associate newborn ...

Today, the GUARDIAN study is moving newborn screening to genomic sequencing, potentially detecting hundreds of conditions before symptoms even appear. But can this cutting-edge technology replace ...

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 ...

I got a blood test as a newborn that changed the course of my life forever. The test, part of newborn screening performed on babies across the U.S. led to my being diagnosed with a rare inherited ...

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 ...

A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...

Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...