Birth Defects Initiative and Birth Defects Working Group


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 4% 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 and the related NICHD Structural Birth Defects Working Group were founded in 2000 by the NICHD and is coordinated by the Developmental Biology and Structural Variation Branch (DBSVB). In addition to support by NICHD, the Working Group now includes structural birth defects research funded by other NIH Institutes, Centers, and Offices including the National Institute on Alcohol Abuse and Alcoholism, the National Institute on Dental and Craniofacial Research (NIDCR), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Institute of Environmental Health Sciences (NIEHS), the National Institute of Neurological Disorders and Stroke (NINDS), and the NIH 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

More Information

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