The NICHD has been committed to newborn screening research since its earliest days. A long-term goal has been to identify newborns for conditions that may cause disease and disabilities early enough to intervene with treatments and to prevent symptoms from developing. To achieve this goal, the Institute's research portfolio focuses on studies to develop new screening methods and novel screening technologies, as well as to find innovative therapies for screenable disorders.
Much of the Institute's newborn screening activities are supported through the Newborn and Population Screening and Diagnosis program within the Intellectual and Developmental Disabilities Branch (IDDB). These activities include the Hunter Kelly Newborn Screening Research Program, which focuses on:
For more information on the Hunter Kelly Newborn Screening Research Program, see the NICHD Spotlights September Is Newborn Screening Awareness Month and NICHD and Newborn Screening: A New Era.
Other NICHD efforts involve developing newborn screening techniques for specific, often rare disorders. For instance:
The NICHD has been committed to newborn screening research since its earliest days, with notable successes. NICHD research and newborn screening have led to advances in the following conditions:
The NICHD is also active in the following activities related to newborn screening:
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