The survival rate in infants with severe combined immunodeficiency, a rare hereditary disease that prevents the body from ...

The new study estimated it would cost $173 million to implement all RUSP-approved conditions across all 50 states, including those added in late 2025 and two anticipated future conditions.

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 ...

A new retrospective cohort study examining the impact of Minnesota's first-in-the-nation mandated universal newborn screening for congenital cytomegalovirus (cCMV) shows that universal screening ...

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 ...

A high-profile Central Florida couple continues fighting to change state and federal law to expand newborn requirements.

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 ...

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine ...

Background Congenital anomalies are among the common health problems faced by children in low- and middle-income countries, ...

The newborn screening program in Utah is now screening for a 45th condition, one expected to affect one infant every one or two years in the state, and it helps the program save lives.

During the Boston Globe’s Rare Disease Summit, Dr. Wendy Chung, a physician-scientist and geneticist who leads the Department ...

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