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NICHD to Fund Newborn Screening Disease Studies

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Institutes of Health plans to give $2 million next year to cover two research programs that will develop knowledge about disorders that could be identified using newborn screening (NBS) tests.

Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the Research Initiative in Newborn Screening grants would be used to "develop a comprehensive understanding of the natural history of disorders that are currently identified by NBS or could potentially benefit from early identification by newborn screening," according to NIH.

The studies would seek to define the sequence and timing of the onset of symptoms and complications of a disorder. They also may use specific genotype-phenotype correlations that could predict clinical course, and they could aim to identify genetic, epigenetic, or environmental factors that would enhance understanding of the clinical outcomes for individuals with certain conditions.

Such comprehensive data could be used in the newborn screening field to accurately diagnose disorders, and to understand the genetic and clinical heterogeneity and phenotypic expression of the disorder. This kind of data also could be used to identify the underlying mechanisms related to basic defects, to potentially prevent, manage, and treat symptoms and complications of the disorder, and to provide children and families with needed support and predictive information about the disorder.

The NICHD initiative will support studies of metabolic disorder conditions such as fatty acid oxidation, amino acid and organic acid metabolism, lysomal storage disorders, hemoglobinopathies, congenital immunodeficiency syndromes, neuromuscular disorders, and genetic syndromes including Fragile X and others.

The institute wants to encourage projects related to disorders that could potentially benefit from newborn screening but which do not have tests currently available. Applicants also are encouraged to submit multi-state consortia of screening programs that are able to provide natural history information for one or more disorders.

NICHD also is encouraging applicants to apply for the use of infrastructure and resources provided by the Newborn Screening Translational Research Network Coordinating Center.

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