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Birth Defects Initiative and Birth Defects Working Group

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The mission of the Birth Defects Initiative is to capitalize on genomic and other biomedical discoveries to further understanding of the mechanisms responsible for structural birth defects, which affect almost four percent of all live births in the United States each year. The ultimate goal is the development of new, innovative, and valuable strategies for the molecular diagnosis, treatment, and prevention of human structural birth defects.

The Initiative was founded in 2000 by the NICHD Developmental Biology and Structural Variations Branch (DBSVB), which supports Initiative research under the support of the Birth Defects Working Group, coordinated by the DBSV Branch. Other funding for Birth Defects Initiative research is provided by other NIH Institutes and Centers, including the National Institute on Alcohol Abuse and Alcoholism, the National Institute on Dental and Craniofacial Research, the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute of Environmental Health Sciences, the National Institute of Neurological Disorders and Stroke, and the Office of Dietary Supplements.

The Initiative supports basic scientists and clinicians whose research projects span basic, translational, and clinical approaches to understanding the developmental biology and genetics of structural birth defects.  Every year at their annual meeting, researchers discuss the plans and progress of their research, exchange ideas and information, share resources, and foster synergistic collaborations that enhance Initiative goals.

Topic Areas

Research areas include (but are not limited to) the following:

  • Chondrodysplasias
  • Club foot
  • Congenital contractures
  • Congenital diaphragmatic hernia
  • Congenital heart defects
  • Cornelia de Lange syndrome
  • Craniofacial defects
  • Cryptorchidism
  • Hypospadias
  • Limb defects
  • Neural tube defects
  • Osteogenesis imperfecta
  • Pituitary defects
  • Scoliosis
  • Skeletal dysplasias
  • Structural brain defects

Current Sites and Projects

The following projects are funded as of 2012 as part of the Structural Birth Defects Initiative. (Funding is provided by the NICHD unless otherwise noted.)

R01 Projects

P01 Projects

K Projects

More Information

Last Updated Date: 11/26/2013
Last Reviewed Date: 11/26/2013
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