Overview
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
- Characterization of Regulatory Elements Leading to Human Limb Malformations
University of California, San Francisco
- Genetic and Molecular Basis of Congenital Contractures
University of Washington
- Genetic Basis of Cryptorchidism
Alfred I. DuPont Hospital for Children, Wilmington, DE
- Analysis of Zebrafish NPT and SXT Mutants in Left-Right Patterning
Princeton University
- A Panhypopituitary Mouse Mutatation
University of Michigan
- Genes, Environmental Exposures, and Hypospadias
Stanford University
- Identification of Novel Genes for Congenital Diaphragmatic Hernia
Columbia University
- Identifying Genes for Recessive Chondrodysplasias Using Ancestral Identity-By-Descent
Cedars-Sinai Medical Center
- Causes of Variability in Craniofacial Disease
University of Texas, Austin
- Study of Neural Tube Defects Etiology: Genome and Exposome
University of Texas, Austin
- Transcriptional Coactivators and Pregnancy Outcomes
University of Louisville
- Genomic/Epigenomic Factors and Non-Syndromic Congenital Heart Defect Risk
University of Arkansas Medical School
- Mouse Models of Genomic Instability and Birth Defects
University of Michigan
- The Role of Sprouty Genes in Development of Mammalian External Genitalia
University of California, San Francisco
- Discovering Human Birth Defects Genes from Chromosomal Rearrangements
Harvard Medical School
- Role of Continuous Phenotypic Variation in Structural Defects of the Face
University of California, San Francisco
- Developmental Mechanisms Underlying Genotype-Phenotype Correlations
University of California, San Francisco
- Congenital Brain Malformations Caused by Aberrant Head Mesenchymal Signaling
Seattle Children’s Hospital
- Teratogenicity of Drugs Commonly Used in Pregnancy
Boston University Medical Campus
- Role of LHX3 Protein Isoforms in Pituitary Development
Indiana University School of Medicine
- Retinoid-Related Genes in Diaphragm and Cardiac Development
Baylor College of Medicine
- Gene-Nutrient Interactions in Neural Tube Defects
Cornell University
- RUNX2 and AXIN2 Interactions During Bone Formation
Mayo Clinic College of Medicine, Rochester
- Identification of Genetic Susceptibility in Adolescent Idiopathic Scoliosis
University of Texas Southwestern Medical Center
P01 Projects
K Projects
More Information