An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the ...

An early diagnosis of hearing loss gave Isaac's family a head start on treatment and help.

A committee of experts will conduct a study examining the current landscape of newborn screening (NBS) systems, processes, and research in the United States and consider sustainable adoption of ...

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 ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

All states need to bring their newborn cystic fibrosis (CF) screening programs into line to ensure timely detection when intervention can do the most good, according to consensus guidelines from the ...

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 ...

Twenty years ago, cystic fibrosis wasn’t a household term for me. Today, cystic fibrosis — a genetic disorder that causes a buildup of thick, sticky mucus that can damage organs, especially the lungs ...

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The Generation Study, which is now available at Nottingham University Hospitals (NUH) NHS Trust, tests for more than 200 rare ...

The Hospital Authority on Monday said it hopes that all private hospitals will join its newborn screening programme ...