Developmental Biology and Structural Variation Branch (DBSVB)

Image of an embryoOverview/Mission

The branch's mission is to develop a comprehensive national program for supporting research and training focused on understanding the biological processes that control normal embryonic development, as well as the mechanisms that underlie molecular susceptibility and etiology of structural birth defects. Major program areas for the branch include developmental genetics, systems developmental biology, early embryonic development and differentiation, biophysics/biomechanics of development, developmental neurobiology and neural crest differentiation, organogenesis, regeneration and regenerative medicine, stem cells and induced pluripotent stem cells, and structural birth defects.

Research projects supported by the branch are primarily basic science in nature and use a variety of animal models, with a priority of elucidating the biochemical, molecular, genetic, and cellular mechanisms of embryonic development and an ultimate goal of understanding the causes of structural birth defects. Efforts to foster interactions between basic scientists and clinicians with common interests in structural birth defects are particularly important to the branch.

Biophysics and Biomechanics of Development

Gap: Biomechanical forces play essential roles in embryonic development but are not well studied, in large part due to current technical limitations.

Priority: Develop technologies and tools to measure mechanical forces associated with morphogenesis in vivo

Developmental Metabolomics

Gap: The field of metabolomics is an important part of normal and abnormal development, but there are few studies and very limited existing knowledge regarding this emerging field within developmental biology.

Priority: Study how small-molecule metabolites, nutrition, energy utilization, and metabolism influence processes during embryonic development, and how imbalances can result in structural birth defects.

Gene Regulatory Networks

Gap: Simple, intuitive pathway models that are currently available are insufficient to explain the highly complicated genetic control mechanisms that govern vertebrate embryonic development.

Priority: Create predictive computational models of the gene regulatory networks that coordinate vertebrate embryogenesis. 

Stem Cell and Regeneration Biology

Gap: Reliable, experimentally accessible human models for studying embryonic development and regenerative processes are lacking.

Priority: Use stem cells, iPSCs, and small-molecule agonists and antagonists of developmental pathways to model and understand human development and regeneration biology.

Structural Birth Defects

Gap: Existing NIH resources for structural birth defects research are underutilized.

Priority: Leverage the use of NIH resources (Knockout Mouse Phenotyping Program, Gabriella Miller Kids First Pediatric Research Program, Database of Genotypes and Phenotypes, and other databases,) by basic and physician scientists to gain insights into the causes of structural birth defects.

Transdisciplinary Research

Gap: A lack of interactions between disciplines hampers effectivecollaborations in studying structural birth defects.

Priority: Encourage transdisciplinary interactions to bridge current gaps between developmental biology, computational, and clinical sciences. 

  • 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, axonal guidance, and neural crest differentiation
  • Early Embryonic Development: Seeks to elucidate the cellular and molecular mechanisms directing the zygote to establish the embryonic plan for developing a complex, multicellular organism
  • Factors in Teratogenesis: Assesses adverse genetic and/or environmental influences on development and to arrive at mechanisms by which developmental aberrations are produced
  • 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: Promote 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 and Birth Defects Working Group: Aims to capitalize on genomic and other biomedical discoveries to further understanding of the mechanisms responsible for structural birth defects
  • Neuroscience Research Support at the NICHD: Describes NICHD support for neuroscience research
  • Trans-NIH Structural Birth Defects Working Group: Brings together extramural program officials from NIH components whose missions include research into structural birth defects

The branch also supports a number of training courses (T15s and R25s) in different scientific areas:

  • Melissa Parisi, Acting Branch Chief
  • Valerie Cotton, Program Analyst
  • James Coulombe
    Main Research Areas: Genetics and genomics: developmental (in the context of developmental biology & structural variation); gene regulatory networks in development; systems biology: developmental
  • Deborah Henken, Health Scientist Administrator
    Main Research Areas: Neural tube defects and neural tube development; neurobiology: developmental
  • Mahua Mukhopadhyay, Program Director
    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: basic studies
  • Reiko Toyama, Health Scientist Administrator
    Main Research Areas: Organogenesis; structural birth defects, excluding neural tube defects


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