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Birth Defects: NICHD Research Goals

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The NICHD’s history is rooted in its aim to understand, to prevent, and to ameliorate a range of birth defects, from structural birth defects, such as NTDs, to IDDs.

Institute research has made critical discoveries about various birth defects, their causes, and their detection, prevention, and management. Research in the institute’s portfolio addresses some of the following topics:

  • Characterization of birth defects. Although a great deal of information exists on the biological, neurocognitive, and behavioral processes that cause various birth defects, it is still unclear for many of these disorders how the various factors interact to produce pathology. Research interests in this area range from full-spectrum phenotypic delineation throughout the life span to genotypic characterization of disorders in affected individuals and throughout a population. Researchers are also mapping the environmental and other influences on the etiology and severity of disorders within families and across populations.
  • Basic mechanisms of typical and atypical development. Through basic research, NICHD-funded scientists have identified many factors that regulate genetic networks triggering and controlling developmental processes and contributing to birth defects. Through the use of model systems, NICHD research is identifying the myriad factors regulating the genetic networks that control these processes. Research includes studies of early embryonic events, organogenesis, and developmental neurobiology.
  • Epigenetic regulation of typical and atypical development. Epigenetic regulatory mechanisms influence developmental processes, including those that underlie some birth defects, such as Prader-Willi syndrome. Investigations focus on the epigenetic changes associated with developmental milestones with the goal of understanding typical and atypical developmental states.
  • Lifetime development of individuals with birth defects. There is a significant knowledge gap about how children with birth defects fare socially, cognitively, vocationally, and adaptively during adulthood. NICHD-funded research seeks to fill these gaps and to improve understanding of the developmental needs of individuals of all ages who are living with birth defects. Such research is particularly important for predicting developmental course and risk/protective factors as well as for developing effective, developmentally sensitive interventions across the life span.
  • Detection and therapeutics. NICHD-funded researchers aim to develop new technologies to detect birth defects and atypical developmental processes. At the same time, efforts to identify new therapeutics to treat the symptoms and underlying causes of birth defects, including pharmacological, educational, and psychological interventions, and to understand the efficacy of existing therapeutics are also ongoing. Researchers also examine why some interventions are effective for one individual and not for another. Measures of efficacy relevant to independent and adaptive functioning are of particular interest.
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