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NICHD Seeking Core Causes of Birth Defects

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – A new, $4 million per-year grant program aimed at understanding the structural causes of birth defects will support research that uses basic, translational, and clinical approaches to study the genetic basis of congenital structural human malformations.

Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the grants will support a variety of studies of malformations that are alike in humans and in animal models in genotype, phenotype, and/or mechanics.

The grants will give up to $900,000 to two or three research groups that will conduct basic and translational research involving systems biology, gene mapping, genetic functioning, and other multidisciplinary approaches.

The basic science projects could include studies to identify and characterize the genes, gene modifiers, gene products, mutations, and polymorphisms that are involved in normal and abnormal embryonic patterning and organ genesis.

The translational/clinical research could seek to: characterize and classify genotypes and phenotypes of human malformations that are comparable in the animal models being examined; develop physical, genetic, and comparative maps for genes involved in human malformations; identify the developmental genetic processes and molecular pathogenesis of human malformations utilizing animal models; develop molecular methods and technologies to enhance diagnosis of human malformations or help to stop the formation of birth defects.

NICHD is encouraging applicants to collaborate with existing population-based birth defects registries, databases, and surveillance programs, especially the Centers for Disease Control and Prevention Centers of Excellence for Birth Defects. Investigators also are encouraged to use new technologies from genetics and developmental biology and bioinformatics databases in the research cores that support the projects.

In order to ensure cost-effectiveness, these cores should share work effort and research resources, such as high-throughput tools, microarrays, oligonucleotide chips, and animal model development.

According to NICHD, nearly five percent of all live births in the US — over 180,000 babies — involve babies born with birth defects, including structural and metabolic abnormalities, making it the second leading cause of death among children, after accidents.