The first 25 years of the NICHD Structural Birth Defects Initiative

Initiated by NICHD and crafted with clinicians and laboratory scientists, the Structural Birth Defects (SBD) Initiative has supported research into the clinical, genetic, biochemical, mechanistic, developmental, and environmental basis of human disorders with structural anomalies for 25 years. The SBD Initiative has supported and continues to fund research teams studying a broad spectrum of single gene (Mendelian) disorders along with defining loci and susceptibility genes in oligogenic phenotypes, including genetic and environmental risk modifiers. The Initiative required and currently convenes biennial meetings of SBD investigators to share data, exchange ideas and initiate collaborations. In alternate years, online trainee symposia provide a platform for medical fellows, postdoctoral fellows and graduate students to present their data, with the goal of attracting and retaining this future generation of investigators in SBD research. In addition to determining their etiology, the SBD Initiative has supported remarkable progress in developing a fundamental mechanistic understanding of this diverse group of phenotypes. Together, scientific progress has led to translational benefits that include 1) widespread diagnostic testing for families with these disorders, both within the United States and across the world, and 2) pharmacological treatments for affected individuals. This progress has fulfilled the promise of the vision of the architects of the program, which is reviewed in this article, and continues to drive the field forward.