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资助的收集和分发受孕组织的主要地点。可行的概念器官和组织的可获得性使该实验室成为生物医学研究的独特和关键的非营利性资源。这项申请旨在继续和进一步发展实验室的核心基本目标：系统地收集、分期、鉴定和处理正常标本，并将其组织分发给接受者。在这次更新应用中，我们将以这一核心目标为基础，通过提供可用于DNA/RNA提取和表观遗传学分析的样本来进一步扩展生物医学研究资源。此外，研究人员将通过以下方式开发资源：1)将系统的收集、鉴定和分发扩展到异常胎儿；2)将产前数据与检查/验尸的终止后发现相关联；3)在对生殖尿路和心血管组织进行验证性研究后，利用组织成像平台的虚拟组织学和表型鉴定能力；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，利用预期丰富的胎儿先天性异常遗传缺陷；5)系统地使研究人员能够获得组织及其数据；以及6)与主要合作者接触并合作，改善服务，增加各自领域的受赠者数量。这项应用建立在ARRA支持的基础上，评估新型组织成像系统增强BDRL服务的效用，并刺激和支持部分基于该资源的研究，以建立在出生缺陷和正常发育的基础上。系统地描述异常胎儿的特征并分配这些胎儿的组织将利用BDRL的独特定位，将其发展为一个重要的研究资源，并为寻求了解人类正常和异常发育的潜在发育生物学的研究人员提供服务。 与公共健康相关：没有描述

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