Progress on Theme 1

Understanding the Molecular, Cellular, and Structural Basis of Development

Highlighted Programs and Activities

  • NEW: Research on structural birth defects
    The NIH-wide Gabriella Miller Kids First Pediatric Research Program (Kids First) is designed to help researchers explore underlying genetic etiologies that may contribute to structural birth defects and childhood cancer, including possible shared genetic pathways. Children with birth defects are at increased risk for developing childhood cancer, which supports the concept of shared genetic pathways. In 2022, NIH is inviting researchers with pediatric cohorts to apply to submit samples for whole genome sequencing at a Kids First-supported sequencing center. These data, and associated clinical and phenotypic data, will become part of the Kids First Data Resource for use by the pediatric research community. Learn more: PAR-22-054.
  • 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 Request for Applications (RFA), which emphasizes -omics research, biomarkers and outcome measures, and innovative technologies. Learn more: RFA-HD-21-009.

Selected Recent Advances

  • NEW: Advanced analysis techniques to speed up genetic diagnosis of rare disorders (PMID: 34514437 and PMID: 34645491)
    Researchers used an artificial intelligence-based analysis method called natural language processing to match genetic variations with symptoms and characteristics of genetic diseases in electronic health records, successfully identifying more than 90% of the genes that caused particular disorders. This method was particularly effective in identifying causative genomic rearrangements often difficult to detect in routine genetic analysis methods. This tool can help support clinical decisions to speed up diagnoses based on genome sequencing of infants in the intensive care unit, where timely diagnosis is critical.
  • NEW: Genetic disorder alters blood vessel formation in the eyes, brain, neck, and spine (PMID: 33497361)
    EPAS1 gain-of-function syndrome is a rare disease characterized by neuroendocrine tumors. The disease results from a mutation in the EPAS1 gene, which disrupts the function of its corresponding protein, hypoxia-inducible factor-2α (HIF-2α). HIF-2α is involved in normal development, blood vessel formation, immune responses and inflammation, and the development of tumors. Researchers used imaging methods to evaluate vessels and structures in both human patients and a mouse model. Unlike neuroendocrine tumors, which are thought to develop later in life, the researchers found developmental malformations that would have been present at birth. They reported several blood vessel-related problems in the eyes, brain, neck, and spine of patients, as well as in the mouse model.
  • Plant compound reduces cognitive deficits in mouse model of Down syndrome (PMID: 33098770)
    In a mouse model of Down syndrome, those treated with apigenin had better memory and developmental milestone scores. The findings support 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, a novel risk factor for neural tube defects in humans.
  • Gene mutation enhances cognitive flexibility in mice (PMID: 32218435)
    Researchers 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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