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.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Resource-Related Research Projects (R24)
Project #
Application #
Study Section
Developmental Biology Subcommittee (CHHD-C)
Program Officer
Hewitt, Tyl
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Washington
Schools of Medicine
United States
Zip Code
Tobita, Takamasa; Guzman-Lepe, Jorge; Takeishi, Kazuki et al. (2016) SIRT1 Disruption in Human Fetal Hepatocytes Leads to Increased Accumulation of Glucose and Lipids. PLoS One 11:e0149344
Dye, Briana R; Dedhia, Priya H; Miller, Alyssa J et al. (2016) A bioengineered niche promotes in vivo engraftment and maturation of pluripotent stem cell derived human lung organoids. Elife 5:
Thomsen, Elliot R; Mich, John K; Yao, Zizhen et al. (2016) Fixed single-cell transcriptomic characterization of human radial glial diversity. Nat Methods 13:87-93
Morimoto, Marie; Myung, Clara; Beirnes, Kimberly et al. (2016) Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis 11:149
Morimoto, Marie; Wang, Karen J; Yu, Zhongxin et al. (2015) Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatr Res 78:609-17
Weinhouse, Caren; Bergin, Ingrid L; Harris, Craig et al. (2015) Stat3 is a candidate epigenetic biomarker of perinatal Bisphenol A exposure associated with murine hepatic tumors with implications for human health. Epigenetics 10:1099-110
Roadmap Epigenomics Consortium; Kundaje, Anshul; Meuleman, Wouter et al. (2015) Integrative analysis of 111 reference human epigenomes. Nature 518:317-30
Nahar, Muna S; Liao, Chunyang; Kannan, Kurunthachalam et al. (2015) In utero bisphenol A concentration, metabolism, and global DNA methylation across matched placenta, kidney, and liver in the human fetus. Chemosphere 124:54-60
Faulk, Christopher; Kim, Jung H; Jones, Tamara R et al. (2015) Bisphenol A-associated alterations in genome-wide DNA methylation and gene expression patterns reveal sequence-dependent and non-monotonic effects in human fetal liver. Environ Epigenet 1:
Cisneros, Irma E; Ghorpade, Anuja (2014) Methamphetamine and HIV-1-induced neurotoxicity: role of trace amine associated receptor 1 cAMP signaling in astrocytes. Neuropharmacology 85:499-507

Showing the most recent 10 out of 39 publications