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The DBSVB supports basic, clinical, and translational research on normal and abnormal development relating to the causes and prevention of structural birth defects, as well as research training in relevant academic and medical areas.
Among the Branch's high-priority research areas is basic research, primarily using a variety of animal models, on elucidating the biochemical, molecular biologic, genetic, and cellular mechanisms of embryonic development.
The DBSVB supports both basic and translational aspects of structural birth defect research by supporting and fostering collaborations between: basic developmental biologists studying normal developmental mechanisms at all embryonic stages and the causes of birth defects in model organisms; biophysicists studying physical/biomechanical aspects of development; and clinicians studying the causes and intervention strategies of specific birth defects in humans.
The study of development is without a doubt foundational to the study of birth defects because they represent developmental defects or “inborn errors of morphogenesis.” Whether these perturbations are due to genetic changes, environmental insults, or a combination of both, understanding the underlying developmental mechanisms only will be achieved through multidisciplinary, collaborative efforts among developmental biologists, geneticists, teratologists, genetic epidemiologists, obstetricians, neonatologist, and pediatricians.
Birth defects are a major cause of infant mortality, and they contribute significantly to disabilities of infancy, childhood, adolescence, and adulthood. Consequently, the DBSVB actively promotes the collaboration of basic and clinical scientists through the NICHD’s Birth Defects Initiative and encourages interactions between NIH Institutes with shared interests in birth defects research by fostering the formation of the Trans-NIH Structural Birth Defects Working Group.
- Funding Opportunity Announcements:
- Phenotyping Embryonic Lethal Knockout Mice (R01): The purpose of this Funding Opportunity Announcement (FOA) is to encourage applications to phenotype embryonic lethal knockout (KO) mouse strains being generated through the International Mouse Phenotyping Consortium (IMPC) of which the NIH Knockout Mouse Phenotyping Program (KOMP2) is a member. It is estimated that KO mouse phenotyping efforts will generate 20,000 mouse strains over the next decade of which about 30% will be embryonic or perinatal lethal. A large portion of homozygous lethal mutations are expected to have viable heterozygous phenotypes. The scientific community has the unique opportunity to leverage these mouse strains while they are being created and bred as part of the IMPC adult mouse phenotyping effort.
- Systems Developmental Biology for Understanding Embryonic Development and the Ontogeny of Structural Birth Defects (R01): The purpose of this FOA is to promote systems developmental biology. Systems developmental biology is an emergent field utilizing the approaches of systems biology to integrate the expanding molecular-level knowledge of genes, proteins, biochemical, biophysical and cellular processes into networks of interacting components that result in embryonic development. Systems developmental biology offers the potential to complement the reductionist focus of modern developmental biology and provide a more comprehensive understanding of the causal relationships leading to normal and abnormal embryogenesis.
- Ruth L. Kirschstein NRSA Institutional Predoctoral Training Program in Systems Biology of Developmental Biology and Birth Defects (T32): The objective of this announcement is to provide research training to predoctoral students interested in establishing research careers that use systems biology approaches to study developmental biology and the formation of structural birth defects. http://grants.nih.gov/grants/guide/pa-files/PAR-13-019.html
- Biophysics and Biomechanical Aspects of Embryonic Development: These announcements encourage applications to advance our knowledge in the area of the physics and mechanics of embryonic development with the prospect of gaining new and critical information about tissue mechanics relevant to vertebrate development and understanding the basis for structural developmental disorders.
- Differentiation and integration of Stem Cells (Embryonic and induced pluripotent) into Developing or Damaged Tissues: The primary focus of the FOA is to promote in vivo studies of stem cells in animal models and in humans to better understand how stem cells function within developing or damaged tissues. This is the important first step for successful transition of stem cell research into clinical applications. The areas of emphasis include systematically profiling and cataloging changes at genetic and epigenetic levels that take place in stem cells and their microenvironment. The purpose is to gain in-depth knowledge of the mechanisms involved in: progressive differentiation of Embryonic Stem Cells (ESCs) into embryonic lineages, progenitor cells and specialized cell types; adult stem cells/progenitor cells during tissue regeneration and wound healing; and Induced Pluripotent Stem Cells (iPSCs) at the site of injury during stem cell therapy. Understanding the basic mechanisms and application of knowledge-based approaches would allow researchers to generate iPSCs that are more closely related to the ESCs at both genetic and epigenetic levels.
- Genetic Susceptibility and Variability of Human Structural Birth Defects (R01): The purpose of this announcement is to support innovative investigator-initiated R01 applications using animal models in conjunction with translational/clinical approaches that take advantage of advances in genetics, biochemistry, molecular, and developmental biology to identify the specific genetic, epigenetic, environmental, or gene/environment interactions associated with the susceptibility to and variability of structural birth defects in human populations. http://grants1.nih.gov/grants/guide/pa-files/PA-11-085.html
- Developmental Mechanisms of Human Structural Birth Defects (P01): This Announcement encourages innovative, multidisciplinary, interactive, and synergistic program project (P01) grant applications that propose to integrate basic, translational, and clinical approaches to understanding the developmental biology and genetic basis of congenital structural human malformations. The projects must share a common central theme, focus, or objective on a specific developmental structural malformation or class of anomalies that is genotypically, mechanistically, biologically, or phenotypically analogous or homologous in both animal models and humans. http://grants1.nih.gov/grants/guide/pa-files/PAR-13-285.html
- Enhancing Developmental Biology Research at Undergraduate Institutions (R15): The goal of this Announcement is to stimulate developmental biology research in Academic Research Enhancement Award (AREA)-eligible educational institutions. The AREA grants support small-scale developmental biology research projects proposed by faculty members of eligible, domestic institutions including many small, primarily undergraduate and historically minority institutions. The intention is to create research opportunities for developmental biologists who otherwise would be unlikely to participate in NIH-funded research. Furthermore, this Announcement encourages: (1) the use of novel or underutilized animal models in developmental biology research, and (2) enhanced exposure of undergraduate students to the basic concepts required to understand and conduct research on the molecular and cellular basis of embryonic development. http://grants.nih.gov/grants/guide/pa-files/PAR-12-057.html
- DBSVB High-Priority Target Areas
- NICHD Spotlights on DBSVB-Supported Research
- Informational Pamphlets and Reports:
- Branch-supported research: