Natural History of Disorders Screenable in the Newborn Period
Funds studies of how conditions found by newborn screening unfold — the sequence and timing of symptoms, and what changes the course.
A newborn screening programme finds a condition before anybody is ill. What happens next depends on knowing how that condition normally unfolds, and for many screened conditions nobody does.
This notice funds building that knowledge, for disorders that are currently part of statewide newborn screening programmes or may become part of them.
The core of it is the sequence and timing of symptom dev…
Studies expanding knowledge of the natural history of disorders that are or may become part of statewide newborn screening programmes, characterising the sequence and timing of symptom development, establishing genotype-phenotype correlations where possible, and identifying modifying genetic, epigenetic or environmental factors, to support targeted age-appropriate treatments, baselines for evaluating interventions, mechanism identification and diagnostic accuracy. Clinical trials are optional.
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