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NICHD to Fund Studies on Birth Defects Genetics

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – The National Institutes of Health will fund new research that will delve into the complex interactions between genetic, biochemical, and environmental factors that are involved in susceptibility and variability of structural birth defects in human populations.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development will support projects that will use genomic analysis and a range of other research approaches to develop new ways to identify genetic contributions, environmental interactions, and non-genetic interactions that contribute to structural birth defects, which affect nearly five percent of all live births in the US.

NICHD and other institutes will fund five-year efforts to develop interdisciplinary genetic and environmental studies and to collaborate with existing population-based birth defects registries, databases, and surveillance programs at the private, state, and federal levels, including the Centers for Disease Control and Prevention.

The research should seek to define, differentiate, and classify the genotypes and phenotypes of the particular malformations being studied. The long-term goal of the program is to identify specific genetic, epigenetic, and environmental causes of anomalies, and to use that information to develop screening, therapeutic, and prevention strategies.

The research also should develop and implement new innovative genetic and molecular biotechnology for identifying and characterizing genetic and environmental factors that are responsible for the epidemiology of malformations. The defects studied may include skeletal, neural tube, craniofacial, and other major organ defects.

Examples of the research areas include, but are not limited to, studies that aim to understand the relationship between genetic polymorphisms and the risk of structural birth defects in the population; identification of genes and gene product interactions critical to development, differentiation, or patterning or metabolic characteristics; hypothesis-driven research of specific gene-environment interactions and structural birth defects, including biomarkers of exposure, effect, and susceptibility; studies of altered gene expression, imprinting, and epigenetic factors; studies that use systems biology to understand the networks of interactions between genes and proteins; research of the genetic basis for multifaceted, complex malformations and risks form environmental exposures; and studies of how gene expression and epigenetic factors affect anomalous embryonic development.