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 ...

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 ...

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 ...

At age 2, Cal Carr was already reaching developmental milestones later than expected — and then she started regressing. Worried, her mom, Maria Kefalas, took her to see a variety of doctors, and the ...

For most parents, newborn screening tests are a barely perceptible safety net. But for the small minority whose babies get diagnosed with a serious but treatable illness, the tests can be lifesaving.

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; ...