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 ...

The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

UCSF Pediatrics Professor Jennifer Puck, MD, has spent decades pushing for universal newborn screening to detect severe combined immune deficiency (SCID), a rare but deadly genetic disorder. Today, ...

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly ...

The US Food and Drug Administration (FDA) has cleared for marketing the first screening test for severe combined immunodeficiency (SCID) in newborns. The EnLite Neonatal TREC Kit, manufactured by ...

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 ...

(InvestigateTV) — Rare disorders and conditions are caught in more than 12,000 babies born every year because of newborn screening done across the United States. But despite the critical need, an ...

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Hearing tests can be classified into two main types: diagnostic and screening. Screening tests that employ pure tone audiometry via basic air conduction are utilized to rapidly assess whether more ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. A little over 40% of parents did not know about the ...