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 ...

Phenylketonuria (PKU) is a rare genetic disorder that occurs when a baby inherits two mutated copies of the PAH gene from each parent. If not identified and treated properly, it can cause lifelong ...

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 ...

Newswise — How can a seemingly healthy newborn have a genetic disorder? Kimberly Chapman, MD, PhD, Section Chief, Medical Genetics at Children’s Hospital Los Angeles explains how newborn screening ...

Babies undergo a newborn screening test for inherited metabolic disorders within seven days of birth. The test checks for risk factors such as hypothyroidism, phenylketonuria and maple syrup urine ...

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 ...

GEORGIA (WALB) - Before you can take your baby home from the hospital, a nurse performs a quick heel-prick test—collecting drops of blood to screen for certain genetic, metabolic, blood, and endocrine ...

LANSING, Mich. (News 10) - State health officials are reminding new and expecting parents that a simple test can flag hidden health problems in babies before they become serious, as September marks ...

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 ...

Newborn screening for genetic metabolic diseases helps a portion of children stay healthy as they grow, but decompensation episodes still occur in the first weeks after birth before test results come ...

In the first study of its kind, Emory University's Department of Human Genetics is collaborating with the National PKU Alliance to test four home monitoring devices for phenylketonuria (PKU) patients.