Established in 2025, the Newborn Screening Collaborative (NBSC) is a volunteer group of patient advocacy, public health, and ...

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

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 ...

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 ...

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 ...

If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...

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

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 ...

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 ...

Massachusetts to pilot GUARDIAN: genomic screening for 450+ newborn conditions. Voluntary, free to participants, and subject to state review.