Developmental Biology and Structural Variation Branch (DBSVB)

EmbryoOverview/Mission

The Developmental Biology and Structural Variation Branch (DBSVB) focuses on the biological causes and consequences of structural birth defects. Understanding the etiology of these errors in embryonic development provides the most promising route toward improving prevention, diagnosis, and potential treatments for these often devastating conditions.

In addition to studies aimed at identifying and understanding the roles of gene variants, environmental perturbations, and other factors causing structural birth defects, DBSVB supports studies intended to advance our understanding of the fundamental processes underlying the formation and differentiation of the embryo. This basic knowledge is crucial for understanding how the process of embryogenesis can go awry.

Major program areas for the branch include developmental genetics, including genomic analysis of human structural birth defects, systems developmental biology, early embryonic development and differentiation, biophysics/biomechanics of development, developmental neurobiology and neural crest differentiation, organogenesis, regeneration, and regenerative medicine.

The branch also funds community resources, animal model systems, research tool development, and training to facilitate the efforts of the developmental biology research community.

We are interested in applications that align with the following research priorities. For more information about NICHD’s research themes, cross-cutting topics, and aspirational goals, visit the plan’s Scientific Research Themes and Objectives.

Birth Defects

Strategic Plan Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development

Gap: Understanding the genetic and environmental origins of a spectrum of structural birth defects is needed to identify potential targets and determine optimal timing for intervention strategies.

Priority: Identification, validation, and functional characterization of human genetic variants associated with structural birth defects using cutting edge technologies in model systems. Provide support for the model organism resources that provide the necessary infrastructure to facilitate this research.

Gene Regulatory Networks

Strategic Plan Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development

Gap: Our understanding of developmental gene regulatory networks is incomplete. A comprehensive picture is necessary to fully understand typical and atypical vertebrate development and the function of genomic variants associated with congenital defects. Currently available linear pathway models are insufficient to capture the highly dynamic and complex genetic control mechanisms that govern vertebrate embryonic development.

Priority: Research aimed at providing comprehensive analyses of gene regulatory networks at the single- and multi-cellular level for all developmental stages using model organisms and human cell-based models. Further research that uses this information to create predictive computational models of the complex gene regulatory networks that coordinate vertebrate embryogenesis.

‘Omics for Developmental Biology

Strategic Plan Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development

Gap: New and emerging functional ‘omics (genomics, epigenomics, proteomics, metabolomics, etc.) technologies have not yet been systematically applied to analyze the dynamics of endogenous developmental processes at the genetic, molecular, and cellular levels.

Priority: Research on the spatial and temporal analyses of developmental processes at the single cell- and tissue-level using ‘omics approaches to advance knowledge of determinants of typical and atypical development.

Stem Cells and Regeneration Biology

Strategic Plan Aspirational Goal: Advance the ability to regenerate human limbs by using emerging technologies to activate the body’s own growth pathways and processes

Gap: Currently, our understanding of any regenerative process is in its infancy, and reliable, experimentally accessible models to understand these processes are lacking.

Priority: Research using emerging tools and evolutionarily divergent models to understand the biology of tissue regeneration with an emphasis on endogenous stem cells.

Mechanics and Biophysics of Development

Strategic Plan Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development

Gap: Technical limitations have hampered our understanding of biomechanical forces that play essential roles in typical and atypical embryonic development.

Priority: Research that uses novel concepts, approaches, tools, and techniques to advance knowledge of the biophysical and mechanical forces that act in concert with genetic mechanisms to drive embryonic morphogenesis.

  • Biophysics/Biomechanics of Development: Examines how biophysical forces and mechano-transduction contribute to morphogenetic events regulating embryonic development and patterning
  • Developmental Genetics and Genomics: Identifies and characterizes factors that control developmental processes and examines how alterations in them lead to structural birth defects
  • Developmental Neurobiology: Examines mechanisms that control the early pattern of the developing nervous system, neurogenesis, differentiation, axonal guidance, neural tube formation, and neural crest differentiation
  • Early Embryonic Development: Seeks to explain the cellular and molecular mechanisms directing the zygote to establish the embryonic plan for developing a complex, multicellular organism
  • Organogenesis: Studies mechanisms underlying normal development of organ primordia against which aberrations can be better understood
  • Regenerative Biology: Examines key biological events underlying tissue regeneration by supporting research in model organisms
  • Stem Cell Biology: Promotes research on basic stem cell biology essential for creating therapeutic opportunities to maximize functional integration and clinical recovery
  • Systems Developmental Biology: Links isolated molecular and mechanistic descriptions of developmental processes into a foundational framework
  • Birth Defects Initiative: Aims to capitalize on genomic and other biomedical discoveries to further understanding of the mechanisms responsible for structural birth defects
  • Gabriella Miller Kids First Pediatric Research Program: Trans-NIH program supported through the NIH Common Fund that aims to foster collaborative research to uncover the causes of childhood cancers and structural birth defects and support data sharing within the pediatric research community.

The branch also supports a number of training courses (R25s) in different scientific areas:

  • James Coulombe, Chief
    Main Research Areas: Developmental genetics and genomics; gene regulatory networks in development; systems developmental biology
  • Tuba Fehr, Program Official
    Main Research Areas: Developmental genetics and genomics; gene regulatory networks in development; systems developmental biology
  • Marcia Fournier, Program Manager
    Main Research Areas: Cancer research; oncology drug discovery and development; genomics; cancer biomarkers; precision medicine
  • Deborah Henken, Program Official
    Main Research Areas: Developmental neurobiology; neural tube defects and neural tube development; axonal guidance, neuronal lineage, and differentiation; neural crest development
  • Mahua Mukhopadhyay, Program Official
    Main Research Areas: Early embryonic development, including energy metabolism/metabolomics during development and the biophysics and biomechanics of development; stem cell biology; differentiation and integration mechanisms; regeneration biology
  • Reiko Toyama, Program Official
    Main Research Areas: Organogenesis; structural birth defects, excluding neural tube defects

Highlights

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