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Birth Defects Res. 2017 Jan 30;109(2):180-185. doi: 10.1002/bdra.23590. Epub 2017 Jan 27.

White paper on the study of birth defects.

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Program in Vertebrate Developmental Biology, Departments of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT.
Department of Epidemiology, Human Genetics and Environmental Sciences and Human Genetics Center, UTHealth School of Public Health, Houston, TX.
Department of Molecular Biosciences, University of Texas, Austin, TX.


Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions have improved survival for many children to beyond their first year, our inability to accurately predict, diagnose and treat the common sequelae of birth defects leaves the economic, social and public health burden of birth defects unacceptably high. An estimated one-third of all pediatric hospital beds are occupied by a child with a genetic diagnosis, and emerging genomic sequencing technologies provide an unprecedented opportunity to identify the genetic variants, including those that cause birth defects. It is essential that we leverage these advances to enhance our understanding of birth defects. Such an effort will lead to new avenues for treatment and provide benefits to families, including improved understanding of the cause of a child's condition and the risks to any future children. Understanding the genetics of human birth defects presents many challenges, some shared with other pathologies and some unique. This White Paper outlines the need for a birth defect genomics initiative, the challenges to overcome, and suggested solutions. Ultimately, we conclude that understanding birth defects must be a trans-NIH effort and involve the development of a new type of interdisciplinary team comprised of clinicians, geneticists, genomicists, epidemiologists, biostatisticians and basic cellular and developmental biologists working together in all aspects of the enterprise. Birth Defects Research 109:180-185, 2017.


Birth defects; funding; genetics; recommendations; research


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