Progress on Theme 1

Understanding the Molecular, Cellular, and Structural Basis of Development

Highlighted Programs and Activities

  • NICHD research on structural birth defects
    NICHD supports research on developmental anomalies that lead to major congenital structural malformations. Studies focusing on the role of quantitative aspects of development, including gene dosage or copy number variation, are particularly encouraged in this Request for Applications (RFA): RFA-HD-21-013.
  • NICHD and National Institute of Allergy and Infectious Diseases (NIAID) research on the development of the fetal immune system
    NICHD and NIAID issued a Program Announcement with special Review considerations (PAR) to support research on the contribution of specific elements of maternal molecular and cellular factors that can control and affect the development of the fetal immune system. Learn more: PAR-20-298.
  • Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers (EKS IDDRCs) and infrastructure for developmental research
    NICHD’s EKS IDDRCs continue to support research infrastructure through the latest reissue of the program RFA, which emphasizes -omics research, biomarkers and outcome measures, and innovative technologies. Learn more: RFA-HD-21-009.

Selected Recent Advances

  • Plant compound reduces cognitive deficits in mouse model of Down syndrome (PMID: 33098770)
    Mice treated with apigenin had better memory and developmental milestone scores. The findings raise the possibility that a treatment to lessen the cognitive deficits seen in Down syndrome could one day be offered to pregnant women whose fetuses have been diagnosed with Down syndrome through prenatal testing.
  • Genetic factors contributing to the risk for spina bifida (PMID: 31898828)
    Researchers identified eight rare and damaging genetic variants associated with spina bifida. The results suggest that these variants failed to perform functions critical for normal neural tube closure.
  • Gene mutation enhances cognitive flexibility in mice (PMID: 32218435)
    Researchers have discovered a genetic mutation in mice that improves cognitive flexibility—the ability to adapt to changing situations. The findings may have implications for understanding epilepsy and autism spectrum disorders, among other conditions.
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