LABORATORY OF DEVELOPMENTAL BIOLOGY

描述（由申请人提供）：46年来，出生缺陷研究实验室（BDRL）一直是NIH资助的收集和分发妊娠组织的主要场所。 可用的可存活的胚胎器官和组织使该实验室成为生物医学研究的一个独特和重要的非营利资源。 该申请旨在继续并进一步发展实验室的核心基本目标：系统收集，分期，鉴定和处理正常标本并将其组织分配给接受者。 在此更新申请中，我们将建立在这一中心目标的基础上，通过提供用于DNA/RNA提取和表观遗传分析的样品，进一步扩展生物医学研究资源。 此外，研究者将通过以下方式开发资源：1）将系统性收集、识别和分发扩展到异常胎儿; 2）将产前数据与检查/尸检的处死后发现相关联; 3）在对泌尿生殖道和心血管组织进行原理验证研究后，利用组织成像平台的虚拟组织学和表型分析能力; 4）通过基于阵列的比较基因组杂交研究生成拷贝数变异数据，利用胎儿先天性异常潜在的遗传缺陷的预期富集; 5）系统地为研究人员提供可访问的组织及其数据;以及6）与关键合作者合作，以改善服务并增加各自领域的接受者数量。 该应用程序建立在ARRA支持的基础上，评估新型组织成像系统的实用性，以增强BDRL服务，并刺激和支持部分基于该资源的研究，以了解出生缺陷和正常发育的基础。 系统地表征异常胎儿和从这些胎儿中分配组织将利用BDRL的独特定位，将其发展为寻求了解正常和异常人类发育的潜在发育生物学的研究人员的重要研究资源和服务。 公共卫生相关性：未描述

DESCRIPTION (Provided by Applicant): 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. PUBLIC HEALTH RELEVANCE: None described