202105 Advancing Research to Understand Congenital Malformations

DBSVB is pleased to present our concept entitled “Advancing Research to Understand Congenital Malformations.”

In the USA, 3% of children born suffer from a structural birth defect.  These congenital conditions are the leading cause of death in the first year of life as well as being among the top ten causes of death through childhood.  Structural birth defects have a great impact on public health, socioeconomics, and family life of patients.  Understanding the causes of congenital malformations has therefore been a priority of the NICHD.

Our prior efforts to stimulate research on structural birth defects focused on encouraging collaborations between developmental biologists and clinical investigators to study the underlying genomic, cellular, and morphological mechanisms giving rise to human structural birth defects. While we can point to successes, gaps remain, in terms of 1) our knowledge of the underlying mechanisms resulting in birth defects, 2) the breadth of defects under investigation, and 3) the diversity of investigators studying them.  

We plan to target each of these areas:

  1. To enhance our understanding of underlying mechanisms, we will encourage applicants to take advantage of advances in genetics, biochemistry, molecular, developmental biology, biophysics, bioinformatics, and metabolomics to identify specific genetic, epigenetic, environmental, or gene/environment interactions associated with the susceptibility to and variability of structural birth defects in human populations.
  2. Our Birth Defects Initiatives have addressed some of the most prominent birth defects including neural tube, congenital diaphragmatic hernia, and heart defects and others, but many more have not been studied in the context of these collaborative efforts.  We will prioritize common and rare structural defects that have received little attention and those needing further mechanistic insights.
  3. To enhance diversity in in birth defects research, we will continue to emphasize interdisciplinary science integrating clinically relevant studies with basic mechanistic research to address the complex mechanisms underlying structural birth defects and to train the next generation of team researchers.  All investigators and trainees associated with these projects will participate in Structural Birth Defects meetings organized by the investigators, providing a forum to discuss research progress, exchange ideas, share resources, and foster collaborations relevant to the goals of the NICHD's Birth Defects Initiative.  We will continue to foster diversity within the next generation of birth defect investigators.

Approval of this concept will allow us to 1) maintain and grow a critical mass of basic and clinical scientists dedicated to collaborative efforts to further understand the etiology of birth defects, 2) enhance the types of structural defects being studied, and 3) enable the training of the next generation of diverse collaborative researchers to study birth defects.  This proposed concept aligns with the NICHD strategic plan-Theme 1 (Understanding the Molecular, Cellular, and Structural Basis of Development) and with the DBSVB’s research priority on Structural Birth Defects.

Program Contact

Reiko Toyama
Developmental Biology and Structural Variation Branch (DBSVB)

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