201501 Developmental Mechanisms of Human Structural Birth Defects (P01)

A request for applications (RFA) is proposed, entitled “Developmental Mechanisms of Human Structural Birth Defects” using the P01 Program Project grant mechanism.


Birth defects research has been an integral part of the NICHD mission since the Institute’s beginning. In its present form, the NICHD Birth Defects Initiative was launched in 1999. One of its main goals has been to encourage collaborative research between basic scientists and clinicians to advance our understanding, diagnosis, treatment, and prevention of structural birth defects. A January 2014 NICHD workshop on the genetics of structural birth defects identified this type of collaborative research as a top priority for advancing the field. The P01 grant mechanism is the vehicle for this collaborative, synergistic research. Currently, there are seven P01s funded through the Birth Defects Initiative. One will sunset in January 2016 and five will end in June 2016. The purpose of the RFA is to provide a vehicle for the potential renewal of existing P01s or the funding of new efforts. The ultimate goal is to maintain a collaborative cohort of scientists working in this field.


Of particular interest to the NICHD are applications to study developmental defects of generalized body patterning and localized dysmorphic anomalies of various systems, such as the skeletal, nervous, and visceral systems, that lead to clinically significant and major congenital structural malformations. In particular, studies that focus on the role of quantitative aspects of development, such as gene dosage, copy number variation, and the role of modifier genes, will be solicited. While applications focusing on developmental disorders that result in intellectual disabilities and related neurobehavioral disabilities are of interest to the NICHD, they are outside the scope of this RFA. However, syndromic conditions, which exhibit intellectual disability as part of the phenotype, are acceptable as long as the focus of the project is on associated structural birth defects (e.g. Cornelia de Lange syndrome).


The objective of this RFA is to support innovative, multidisciplinary, interactive, and synergistic P01s that integrate basic, translational, and/or clinical approaches to understanding the developmental biology and genetic basis of structural birth defects. To contain costs, each program will consist of only three component projects and associated cores. At least one project must use basic research in an animal model system, and at least one project must be clinical or translational in nature. The component projects must share a common central theme, focus, or objective on a specific developmental defect or malformation that is genotypically, mechanistically, biologically, or phenotypically analogous or homologous in both animal models and humans. Any non-mammalian or mammalian animal model may be used, as long as it contributes to the common overall theme or objective of the program project.

Program Contact

Lorette C. Javois, Ph.D.
Developmental Biology & Structural Variation Branch


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