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Developmental Genetics and Genomics

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Developmental Genetics and Genomics: to identify and characterize the genes, genetic networks and epigenetic factors that control developmental processes and to understand how alterations in them lead to structural birth defects

This program supports research seeking to identify and understand the operation of genes that control the processes of embryogenesis, pattern formation, determination, and differentiation. These genes operate in normal development and also form the genetic underpinnings of human structural birth defects. Projects funded under this program use a variety of modern genetic and genomic approaches to identify new genes involved in developmental processes as well as genes responsible for known human structural birth defects. Also funded by this program are efforts to understand the molecular mechanistic roles of known developmentally important genes. In support of developmental genetics and genomics research, the program also funds bioinformatics resources, development of new genetic tools, and training efforts.

The work supported by the developmental genetics portfolio utilizes a variety of experimental animal models as well as comparative approaches to human genomics to study fundamental processes with important medical ramifications. For example, identification of genetic anomalies responsible for human birth defects provides a basis for a mechanistic understanding of the defect, markers for diagnostic technologies, as well as a foundation for engineering animal models for preclinical studies.

The experimental techniques and fundamental knowledge pursued in these studies will provide both the intellectual and technological substrates for development of future clinical advances.

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