For 46 years, the Birth Defects Research Laboratory (BDRL) has been the major NIH-funded site for collection and distribution of conceptal tissues. The availability of viable conceptal organs and tissues has made the Laboratory a unique and critical non-profit resource for biomedical research. This application seeks to continue and further develop the core fundamental goal of the laboratory: the systematic collection, staging, identification, and processing of normal specimens and distribution of their tissues to recipients. In this renewal application, we will build upon this central aim to extend the biomedical research resource further by making available samples for DNA/RNA extraction and epigenetic assays. In addition, the investigator will develop the resource by 1) extending the systematic collection, identification, and distribution to abnormal fetuses; 2) correlating prenatal data with the post-termination findings from examination/postmortem; 3) exploiting the virtual histological and phenotyping capabilities of tissue imaging platforms after performing proof-of-principle studies in genitourinary tract and cardiovascular tissues; 4) capitalizing on the expected enrichment of genetic defects underlying fetal congenital anomalies by generating copy number variant data through array-based comparative genomic hybridization studies; 5) systematically making accessible tissues and their data for investigators; and 6) engaging and working with key collaborators to improve services and increase recipient numbers in their respective fields. This application builds upon ARRA support, evaluating the utility of novel tissue imaging systems to enhance BDRL services, and stimulating and supporting research based in part on this resource into the bases of birth defects and normal development. Systematically characterizing abnormal fetuses and distributing tissues from these fetuses will exploit the unique positioning of the BDRL to develop this as a significant research resource and service to researchers who seek to understand the underlying developmental biology of normal and abnormal human development.
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